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1.  Contact Sport Concussion Incidence 
Journal of Athletic Training  2006;41(4):470-472.
Reference/Citation: Koh JO, Cassidy JD, Watkinson EJ. Incidence of concussion in contact sports: a systematic review of the evidence. Brain Inj.20031790191712963556.
Clinical Question: What is the incidence of concussion in various contact sports?
Data Sources: Studies for the review were found through a MEDLINE search (1985–2000) and by gathering and reviewing older articles referenced in the searched articles. The main terms that were included in the search were brain injuries, brain concussion, and incidence. Text words that were also included were mild traumatic brain injury, concussion, incidence, injury, and head injury, along with the names of 8 contact sports ( American football, boxing, ice hockey, judo, karate, tae kwon do, rugby, and soccer).
Study Selection: For this review, concussion was defined as “a mild brain injury resulting from a direct blow to the head resulting in physiological changes in brain function.” Cohort studies with documented incidence of concussion in athletes from 8 identified contact sports were the target of the search. All studies of male and female athletes in any of the 8 contact sports, including practices and games and regardless of level of competition, were included in the study search. Possible articles for review were identified through a 3-step screening process. Article titles were initially screened by one of the authors. If the title seemed to be relevant to the purpose of the review, the abstract of the article was then screened for inclusion/exclusion criteria as the second step. To be included, studies had to relate to the incidence of injury to the head and brain, report results relevant to concussion, involve 1 of the 8 identified contact sports, and be published between 1985 and 2000. All systematic reviews about mild traumatic brain injury (TBI) or concussion were also included. Studies were excluded if they discussed concussion due to whiplash injury or concussion associated with spinal cord injury, facial bone fracture, or soft tissue injuries; if they reported prevalence, rather than incidence, of concussion; if they addressed chronic TBI; if they comprised case reports or letters to the editor; or if they lacked a denominator to determine risk rates. Finally, relevant and unknown articles from the abstract screening were reviewed again for the inclusion and exclusion criteria by an independent, outside party.
Data Extraction: A general methodologic criteria design was used to critically appraise all articles that met the inclusion and exclusion criteria. This design appraised 11 study design and reporting criteria. In order for an article to be accepted into the systematic review, it had to meet at least the 5 mandatory criteria: description of the source population, appropriate description of inclusion and exclusion criteria, verifiable results from the raw data, differentiation of the incidence of injury between practice and game settings, and adequately measured denominator of population or person-time at risk. For each individual study, the 5 mandatory criteria listed above were rated with regard to whether they were included or addressed in the paper ( yes), were missing from the paper ( no), or were included but not described fully or in a way characterized by sound quality ( substandard). If any of the 5 mandatory criteria were rated no, the article was not evaluated any further. Data taken from these articles included sex, types of sessions in which concussion occurred, and numbers defining incidence of concussion within a contact sport. In some studies, rates were recalculated from the raw data in order to check accuracy, or if they were not presented in the published material, rates were calculated. These rates were recalculated with the denominator presented in the original study, athletes at risk for injury or time at risk for injury. Athlete-exposure was not defined in the review but is commonly used as the denominator in epidemiologic studies and represents one time in which an athlete takes part in a game or practice that exposes him or her to a risk for injury.
Main Results: The overall search identified 559 publications with possible relevance to the incidence of concussion in contact sports. After the titles were screened, 213 articles remained, and their abstracts were reviewed. The abstract screening for relevance yielded 127 articles to which the inclusion and exclusion criteria were applied. The investigators then critically reviewed 63 articles that fit the inclusion criteria. During this critical review, 40 articles did not meet the 5 mandatory criteria listed above and were not evaluated further. After final screening, 23 articles were included in the study. Review of these 23 articles revealed that among team sports for high school males, ice hockey athletes demonstrated the highest incidence of concussion (3.6 per 1000 athlete-exposures [AEs], 95% confidence interval [CI] = 0.99–9.29) and soccer athletes the lowest incidence of concussion (0.18 per 1000 AEs, 95% CI = 0.14–0.22). At the professional level, similar concussion incidence rates were found in both ice hockey (6.5 per 1000 player-games, 95% CI = 4.8–8.6) and rugby (9.05 per 1000 player-games, 95% CI = 4.1–17.1) players. When compared with other individual male sports (karate and tae kwon do), boxing had the highest incidence of concussion in professional (0.8 per 10 rounds, 95% CI = 0.75–0.95) and amateur (7.9 per 1000 man-minutes, 95% CI = 5.45–11.09) athletes. Only 6 included studies (5 dealing with tae kwon do and 1 with soccer) addressed concussion incidence in females. Tae kwon do had the highest incidence of concussion (8.77 per 1000 AEs, 95% CI = 0.22–47.9).
Conclusions: The information presented in the article offers helpful insight into the rate of concussion in athletes from 8 contact sports. Ice hockey seemed to have the greatest incidence of concussion for males, whereas tae kwon do had the highest incidence rate for females. Relatively few rigorous epidemiologic studies on the incidence of concussion exist. Specifically, 63% of the identified studies did not meet the methodologic criteria to be included in this systematic review. In addition, limited information exists on the risk of concussion for females in contact sports. Future authors should address the limitations in reporting incidences, including the lack of adequately measured denominators (person-time at risk), vague definitions of concussion, combining game and practice injuries, and history of concussive injury. Future researchers should also include at least the 5 mandatory methodologic criteria used in the critical appraisal of articles for this review to allow for better reporting of concussion incidence and comparison among various studies. Concussion incidence in females should also be explored.
PMCID: PMC1748409  PMID: 17273475
head injury; brain injury; epidemiology
2.  Ultralow-dose Dexamethasone to Preserve Endogenous Cortisol Stress Response in Nonclassical Congenital Adrenal Hyperplasia: A New Promising Treatment 
Introduction:
Nonclassical congenital adrenal hyperplasia (CAH) is characterized by sufficient cortisol and aldosterone production at the cost of androgen overproduction. Hydrocortisone or dexamethasone in supraphysiological doses are current treatment; however, their downside is suppression of endogenous cortisol production resulting in corticosteroid dependency. We aimed to treat children with nonclassical CAH with a ultralow-dose dexamethasone to normalize androgen levels, without a detrimental effect on endogenous cortisol production.
Case Presentation:
We recruited five patients diagnosed with nonclassical CAH on the basis of clinical presentation, biochemical analyses, and genetic testing. Anthropometric as well as biochemical parameters and bone age were measured on a regular basis. During treatment, an adrenocorticotropin (ACTH) stimulation test was performed. Outcome measures were normalization of androgens and deceleration of the bone age advancement with sufficient endogenous cortisol response. Androgen levels were normalized in all patients resulting in a deceleration of the bone age advancement. Cortisol stress response remained normal in four out of five patients. Only one patient needed hydrocortisone stress dosing.
Conclusions:
According to this case series, it seems that ultralow-dose dexamethasone in treatment of nonclassical CAH would be a promising novel treatment strategy. The advantage of this treatment strategy is that adverse effects of hyperandrogenism can be reversed while preserving the endogenous cortisol stress response.
doi:10.5812/ijem.14657
PMCID: PMC4166204  PMID: 25237318
Adrenal Hyperplasia, Congenital; Dexamethasone; Therapeutics; Hyperandrogenism
3.  Game Location and Team Quality Effects on Performance Profiles in Professional Soccer 
Home advantage in team sports has an important role in determining the outcome of a game. The aim of the present study was to identify the soccer game- related statistics that best discriminate home and visiting teams according to the team quality. The sample included all 380 games of the Spanish professional men’s league. The independent variables were game location (home or away) and the team quality. Teams were classified into four groups according to their final ranking at the end of the league. The game-related statistics registered were divided into three groups: (i) variables related to goals scored; (ii) variables related to offense and (iii) variables related to defense. A univariate (t-test and Mann-Whitney U) and multivariate (discriminant analysis) analysis of data was done. Results showed that home teams have significantly higher means for goal scored, total shots, shots on goal, attacking moves, box moves, crosses, offsides committed, assists, passes made, successful passes, dribbles made, successful dribbles, ball possession, and gains of possession, while visiting teams presented higher means for losses of possession and yellow cards. In addition, the findings of the current study confirm that game location and team quality are important in determining technical and tactical performances in matches. Teams described as superior and those described as inferior did not experience the same home advantage. Future research should consider the influence of other confounding variables such as weather conditions, game status and team form.
Key pointsHome teams have significantly higher figures for attack indicators probably due to facilities familiarity and crowd effects.The teams’ game-related statistics profile varied according to game location and team quality.Teams described as superior and those described as inferior did not experience the same home advantage.
PMCID: PMC3737821  PMID: 24150619
Association football; home advantage; game-related statistics; match analysis; discriminant analysis.
4.  Congenital adrenal hyperplasia: Treatment and outcomes 
Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders where there is impairment of cortisol biosynthesis. CAH due to 21-hydroxylase deficiency accounts for 95% of cases and shows a wide range of clinical severity. Glucocorticoid and mineralocorticoid replacement therapies are the mainstays of treatment of CAH. The optimal treatment for adults with CAH continues to be a challenge. Important long-term health issues for adults with CAH affect both men and women. These issues may either be due to the disease or to steroid treatment and may affect final height, fertility, cardiometabolic risk, bone metabolism, neuro-cognitive development and the quality-of-life. Patients with CAH should be regularly followed-up from childhood to adulthood by multidisciplinary teams who have knowledge of CAH. Optimal replacement therapy, close clinical and laboratory monitoring, early life-style interventions, early and regular fertility assessment and continuous psychological management are needed to improve outcome.
doi:10.4103/2230-8210.119491
PMCID: PMC3830282  PMID: 24251136
Bone health; cardio-metabolic risk; congenital adrenal hyperplasia; fertility; final height; glucocorticoids; neurocognitive outcome; quality-of-life
5.  A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome 
A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant’s weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH due to 21-hydroxylase deficiency. Karyotyping revealed a 45X0(35)/46XX(22) pattern with negative sex-determining region Y (SRY) on gene analysis. At the most recent follow-up visit, the patient appeared to be in good health - her height was 70.4 cm [-1.5 standard deviation (SD)] and her weight was 9.8 kg (0.3 SD). She was receiving hydrocortisone in a dose of 10 mg/m2/day, fludrocortisone acetate in a dose of 0.075 mg/day, and oral salt of 1 g/day. System examinations were normal. The patient’s electrolyte levels were found to be normal and she was in good metabolic control. The findings of this patient demonstrate that routine karyotyping during investigation of patients with sexual differentiation disorders can reveal TS. Additionally, signs of virilism should always be investigated at diagnosis or during physical examinations for follow-up of TS cases. [i][/i]SRY analysis should be performed primarily when signs of virilism are observed. CAH should also be considered in patients with negative [i]SRY[/i].
Conflict of interest:None declared.
doi:10.4274/Jcrpe.767
PMCID: PMC3537289  PMID: 23261864
Turner syndrome; congenital adrenal hyperplasia; sex differentiation disorder; karyotyping
6.  A Case of Congenital Lipoid Adrenal Hyperplasia 
Lipoid congenital adrenal hyperplasia (lipoid CAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a 28-day-old phenotypic female infant, which referred with lethargy, failure to thrive and electrolyte abnormalities. Considering the clinical and biochemical findings, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid and mineralocorticoid and sodium chloride was initiated. During follow-up, she had good clinical condition, but at 6 years of age, she refers with hypertension and adrenal insufficiency because of arbitrary drug discontinuation by mother. In ultrasonography an abdominal mass (the testicles) was reported. Chromosome study showed 46XY pattern. Orchiectomy was performed. We recommended that in cases with clinical presentation of adrenal insufficiency if there is not the facility to determine the karyotype, repeated ultrasonography perform during follow-up. In addition, investigating the genetic bases of the disorder would help us to determine the pathogenesis of lipoid CAH in our community. It would be helpful in prenatal diagnosis and treatment of the disorder to prevent its related comorbidities.
PMCID: PMC3415193  PMID: 22891154
46XY; failure to thrive; lipoid congenital adrenal hyperplasia
7.  Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families 
Objective
To comprehensively phenotype parents identified with nonclassic congenital adrenal hyperplasia (NCCAH) by family genetic studies, termed here as cryptic NCCAH and to define the incidence of cryptic NCCAH in the parents of a large cohort of patients with 21-hydroxylase deficiency.
Design
Genotyping was performed on 249 parents of 145 unrelated congenital adrenal hyperplasia CAH) patients. Parents with two CYP21A2 mutations underwent extensive evaluation.
Results
Of the 249 parents, ten (4%; seven females and three males) were identified as having cryptic NCCAH. The majority was of ethnicities previously reported to have a higher incidence of NCCAH. Cosyntropin stimulation performed in eight parents provided biochemical confirmation (17-hydroxyprogesterone range 56–364 nmol/l) and cortisol response was % 500 nmol/l in three parents (38%). Of the seven women (27–54 years) with cryptic NCCAH, four had prior infertility, two reported irregular menses, two had treatment for hirsutism, one had androgenic alopecia. Men were asymptomatic. All cryptic NCCAH parents reported normal puberty and had normal height. Adrenal hypertrophy and a small adrenal myelolipoma were observed in two parents; testicular adrenal rest tissue was not found.
Conclusions
Parents diagnosed with NCCAH by genetic testing are mostly asymptomatic. Temporary female infertility and suboptimal cortisol response were commonly observed. Ongoing glucocorticoid therapy is not indicated in adults with CAH identified by family genotype studies unless symptomatic, but glucocorticoid stress coverage should be considered in select cases. Parents of a child with CAH have a 1:25 risk of having NCCAH; if the mother of a child with CAH has infertility, evaluation for NCCAH is indicated.
doi:10.1530/EJE-11-0019
PMCID: PMC3470911  PMID: 21444649
8.  Modelling the Progression of Competitive Performance of an Academy’s Soccer Teams 
Progression of a team’s performance is a key issue in competitive sport, but there appears to have been no published research on team progression for periods longer than a season. In this study we report the game-score progression of three teams of a youth talent-development academy over five seasons using a novel analytic approach based on generalised mixed modelling. The teams consisted of players born in 1991, 1992 and 1993; they played totals of 115, 107 and 122 games in Asia and Europe between 2005 and 2010 against teams differing in age by up to 3 years. Game scores predicted by the mixed model were assumed to have an over-dispersed Poisson distribution. The fixed effects in the model estimated an annual linear pro-gression for Aspire and for the other teams (grouped as a single opponent) with adjustment for home-ground advantage and for a linear effect of age difference between competing teams. A random effect allowed for different mean scores for Aspire and opposition teams. All effects were estimated as factors via log-transformation and presented as percent differences in scores. Inferences were based on the span of 90% confidence intervals in relation to thresholds for small factor effects of x/÷1.10 (+10%/-9%). Most effects were clear only when data for the three teams were combined. Older teams showed a small 27% increase in goals scored per year of age difference (90% confidence interval 13 to 42%). Aspire experienced a small home-ground advantage of 16% (-5 to 41%), whereas opposition teams experienced 31% (7 to 60%) on their own ground. After adjustment for these effects, the Aspire teams scored on average 1.5 goals per match, with little change in the five years of their existence, whereas their opponents’ scores fell from 1.4 in their first year to 1.0 in their last. The difference in progression was trivial over one year (7%, -4 to 20%), small over two years (15%, -8 to 44%), but unclear over >2 years. In conclusion, the generalized mixed model has marginal utility for estimating progression of soccer scores, owing to the uncertainty arising from low game scores. The estimates are likely to be more precise and useful in sports with higher game scores.
Key pointsA generalized linear mixed model is the approach for tracking game scores, key performance indicators or other measures of performance based on counts in sports where changes within and/or between games/seasons have to be considered.Game scores in soccer could be useful to track performance progression of teams, but hundreds of games are needed.Fewer games will be needed for tracking performance represented by counts with high scores, such as game scores in rugby or key performance indicators based on frequent events or player actions in any team sport.
PMCID: PMC3737935  PMID: 24149364
Association football; generalised mixed model; key performance indicators; performance trends
9.  Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort 
Context:
In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a strong genotype-phenotype correlation exists in childhood. However, similar data in adults are lacking.
Objective:
The objective of the study was to test whether the severity of disease-causing CYP21A2 mutations influences the treatment and health status in adults with CAH.
Research Design and Methods:
We analyzed the genotype in correlation with treatment and health status in 153 adults with CAH from the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive cohort.
Results:
CYP21A2 mutations were distributed similarly to previously reported case series. In 7 patients a mutation was identified on only 1 allele. Novel mutations were detected on 1.7% of alleles (5 of 306). Rare mutations were found on 2.3% of alleles (7 of 306). For further analysis, patients were categorized into CYP21A2 mutation groups according to predicted residual enzyme function: null (n = 34), A (n = 42), B (n = 36), C (n = 34), and D (n = 7). Daily glucocorticoid dose was highest in group null and lowest in group C. Fludrocortisone was used more frequently in patients with more severe genotypes. Except for lower female height in group B, no statistically significant associations between genotype and clinical parameters were found. Androgens, blood pressure, lipids, blood glucose, and homeostasis model assessment of insulin resistance were not different between groups. Subjective health status was similarly impaired across groups.
Conclusions:
In adults with classic CAH and women with nonclassic CAH, there was a weak association between genotype and treatment, but health outcomes were not associated with genotype. The underrepresentation of males with nonclassic CAH may reflect that milder genotypes result in a milder condition that is neither diagnosed nor followed up in adulthood. Overall, our results suggest that the impaired health status of adults with CAH coming to medical attention is acquired rather than genetically determined and therefore could potentially be improved through modification of treatment.
doi:10.1210/jc.2012-3343
PMCID: PMC3651585  PMID: 23337727
10.  Long-term Follow up of Congenital Adrenal Hyperplasia Patients with Hyponatremia 
Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is an autosomal recessive disease, which leads to cortisol and aldosterone deficiency and hyperandrogenism. Typical medical treatment includes oral glucocorticoid and mineralocorticoid administration to suppress adrenal androgens and to compensate for adrenal steroid deficiencies. However, some patients stopped taking medicine without the doctor's consent. Among these patients, four cases of CAH patients showing the presence of hyponatremia as an initial electrolyte disorder were found with adrenal adenoma. Hypersecretion of adrenocorticotrophic hormone and chronic poor compliance to therapy appears to be associated with the development of the adrenal tumor. Two cases were managed with adrenalectomy because of increasing adrenal tumor size and virilization. Whereas the other two cases did not increase in size and were observed without adrenalectomy. Therefore, it is important that patients with CAH maintain steroid medication to avoid the appearance of adrenal tumor.
doi:10.5049/EBP.2007.5.2.140
PMCID: PMC3894515  PMID: 24459514
Congenital adrenal hyperplasia; 21-hydroxylase deficiency; Hyponatremia; Adrenal tumor
11.  Hypoglycemia during acute illness in children with classic congenital adrenal hyperplasia 
Congenital adrenal hyperplasia (CAH) describes a group of genetic, autosomal recessive conditions, where there is a block in cortisol biosynthesis. Approximately 95 percent of cases are due to 21-hydroxylase deficiency, which is discussed in this article. Patients with the severe or classic form of CAH have epinephrine deficiency in addition to cortisol deficiency. Both epinephrine and cortisol are important counterregulatory hormones and help prevent hypoglycemia during physical stress. This is the first prospective study to evaluate the incidence of hypoglycemia during acute illness in children with classic CAH. Our objective was to examine blood glucose levels and symptoms of these children during the physical stressor of a typical acute illness managed at home.
Twenty patients, ages 3 to 10 years with classic CAH participated. Parents were instructed regarding management of illnesses, home blood glucose monitoring and questionnaire completion. Over 29 months, 20 patients completed questionnaires and 6 patients performed home blood glucose monitoring. A blood glucose of <60mg/dL was documented in 3 out of 8 monitored acute illness episodes, and in 2 out of 6 of monitored children. The acute illness episodes with documented blood glucose <60mg/dL were not associated with vomiting.
Our data suggest that children with classic CAH may experience lowering of blood glucose during illnesses, and patient education regarding the management of common childhood illness should include glucose supplementation.
doi:10.1016/j.pedn.2008.06.003
PMCID: PMC2819226  PMID: 20117671
12.  Amygdala Function In Adolescents With Congenital Adrenal Hyperplasia: A Model For The Study Of Early Steroid Abnormalities 
Neuropsychologia  2007;45(9):2104-2113.
Early disruption of steroids affects the development of mammalian neural circuits underlying affective processes. In humans, patients with classic Congenital Adrenal Hyperplasia (CAH) can serve as a natural model to study early hormonal alterations on functional brain development. CAH is characterized by congenital glucocorticoid insufficiency, leading to altered hypothalamic-pituitary-adrenal (HPA) function, and hyperandrogenism. Using fMRI, we compared fourteen adolescents with CAH to 14 healthy controls on amygdala response to a face viewing task. In response to negative facial emotions, CAH females activated the amygdala significantly more than healthy females, whereas CAH males did not differ from control males. Furthermore, females with CAH showed a similar pattern of amygdala activation to control males, suggesting virilized amygdala function in females with CAH. These findings suggest a prominent effect of early hyperandrogenism on the development and function of the amygdala in females with CAH, whereas no effects were detected in males with CAH. This study provides data that can be further tested in a model of the neurobiological mechanisms underlying early androgen organizational effect on amygdala function.
doi:10.1016/j.neuropsychologia.2007.01.019
PMCID: PMC2929598  PMID: 17336344
development; corticosteroid; androgen; affective processing; fMRI; stress hormones
13.  Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients 
Context: No consensus exists for management of adults with congenital adrenal hyperplasia (CAH) due to a paucity of data from cohorts of meaningful size.
Objective: Our objective was to establish the health status of adults with CAH.
Design and Setting: We conducted a prospective cross-sectional study of adults with CAH attending specialized endocrine centers across the United Kingdom.
Patients: Participants included 203 CAH patients (199 with 21-hydroxylase deficiency): 138 women, 65 men, median age 34 (range 18–69) years.
Main Outcome Measures: Anthropometric, metabolic, and subjective health status was evaluated. Anthropometric measurements were compared with Health Survey for England data, and psychometric data were compared with appropriate reference cohorts.
Results: Glucocorticoid treatment consisted of hydrocortisone (26%), prednisolone (43%), dexamethasone (19%), or a combination (10%), with reverse circadian administration in 41% of patients. Control of androgens was highly variable with a normal serum androstenedione found in only 36% of patients, whereas 38% had suppressed levels suggesting glucocorticoid overtreatment. In comparison with Health Survey for England participants, CAH patients were significantly shorter and had a higher body mass index, and women with classic CAH had increased diastolic blood pressure. Metabolic abnormalities were common, including obesity (41%), hypercholesterolemia (46%), insulin resistance (29%), osteopenia (40%), and osteoporosis (7%). Subjective health status was significantly impaired and fertility compromised.
Conclusions: Currently, a minority of adult United Kingdom CAH patients appear to be under endocrine specialist care. In the patients studied, glucocorticoid replacement was generally nonphysiological, and androgen levels were poorly controlled. This was associated with an adverse metabolic profile and impaired fertility and quality of life. Improvements in the clinical management of adults with CAH are required.
Adult patients with congenital adrenal hyperplasia (CAH) have poor subjective health status and only a minority of CAH adults receives regular review by endocrine specialists.
doi:10.1210/jc.2010-0917
PMCID: PMC3066446  PMID: 20719839
14.  Bone Health Should Be an Important Concern in the Care of Patients Affected by 21 Hydroxylase Deficiency 
Osteoporosis has been an understandable concern for children and adult patients with congenital adrenal hyperplasia (CAH) who may receive or have received supraphysiological doses of glucocorticoids. Some previous reports on bone mineral density (BMD) in adult CAH patients showed no significant differences in BMD between patients with CAH and controls, but others have found lower BMD in CAH patients. In reports documenting the BMD reduction, this outcome has been attributed to an accumulated effect of prolonged exposure to excess glucocorticoids during infancy and childhood. We recently conducted a trial to establish the role of the total cumulative glucocorticoid dose on BMD. We established for the first time that there was a negative relationship between total cumulative glucocorticoid dose and lumbar and femoral BMD. Women might benefit from the preserving effect of estrogens compared to men. BMI (Body Mass Index) also appeared to protect patients from bone loss. In light of this, physicians should bear in mind the potential consequences of glucocorticoids on bone and therefore adjust the treatment and improve clinical and biological surveillance from infancy. Furthermore, preventive measures against corticosteroid-induced osteoporosis should be discussed right from the beginning of glucocorticoid therapy.
doi:10.1155/2010/326275
PMCID: PMC2948879  PMID: 20936142
15.  Bone Mineral Density in Collegiate Female Athletes: Comparisons Among Sports 
Journal of Athletic Training  2007;42(3):403-408.
Context: Some female athletes may have decreased bone mineral density (BMD), which puts them at higher risk for stress fractures and future osteoporosis.
Objective: To compare site-specific BMD among National Collegiate Athletic Association Division I varsity female athletes and to determine predictor variables of BMD measurements.
Design: Between-groups design.
Setting: University health care system.
Patients or Other Participants: All women varsity athletes were invited to participate in a cross-sectional study. Of 12 sports, we obtained complete data from 99 women (mean age = 20.2 ± 1.3 years) representing gymnastics, softball, cross-country, track, field hockey, soccer, crew, and swimming/diving.
Main Outcome Measure(s): Each participant was weighed, measured, and questioned about her menstrual status. Using dual-energy x-ray absorptiometry, we measured total-body BMD and region-of-interest scores for lumbar spine, pelvis, and average leg (average from right and left leg measurements) BMD. Using analyses of covariance, we compared BMD measurements among sports at each site while controlling for menstrual status and mass, and we performed a stepwise regression analysis to determine significant predictors of BMD at each site.
Results: Twenty-three athletes were oligomenorrheic or amenorrheic. Runners had the lowest total-body (1.079 ± 0.055 g·cm −2) and site-specific ( P < .01) BMD values for every site except average leg score when compared with gymnasts and softball players. Swimmers and divers had significantly lower average leg BMD (1.117 ± 0.086 g·cm −2) than athletes in every other sport except runners and rowers ( P < .01). Regression analysis revealed only mass and sport as significant predictors of total-body BMD.
Conclusions: Runners and swimmers and divers demonstrated some deficits in site-specific BMD values when compared with athletes in other sports. When treating a female varsity athlete, athletic trainers should consider her mass and sport type with regard to her bone health.
PMCID: PMC1978462  PMID: 18059997
female athlete triad; bone health; amenorrhea; oligomenorrhea
16.  Mixed Form of Hirsutism in an Adolescent Female and Laser Therapy 
Introduction:
Hirsutism is a common disorder of excess growth of terminal hair in an androgen-dependent male distribution in women, including the chin, upper lip, breasts, back, and abdomen. It is very important to identify the etiology of hirsutism and adequate treat is prior to any cosmetic therapy.
Case Presentation:
The case was a 17-year-old female with severe hirsutism, oligomenorrhea, and obesity. She was evaluated to identify the etiology and diagnosed as a case of polycystic ovarian syndrome (PCOS), nonclassic congenital adrenal hyperplasia (NC-CAH), and hyperandrogenic insulin-resistant acanthosis nigricans (HAIR-AN) syndrome, which is a rare combination of hirsutism etiology. She was successfully treated according to the underlying pathology, and laser photoepilation was used as the preferred hair removal method.
Discussion:
Establishing the etiology, using the evidence–based strategies to improve hirsutism, and treating the underlying disorder, are essential for proper management of women with hirsutism.
doi:10.5812/ircmj.9410
PMCID: PMC4103002  PMID: 25068069
Hirsutism; PCOS; NC-CAH; Lasers
17.  Survey on the occurrence of dental trauma and preventive strategies among Brazilian professional soccer players 
Journal of Applied Oral Science  2010;18(6):572-576.
Objectives
The aims of this study were to verify the occurrence of dental injuries in professional Brazilian soccer players, the level of knowledge of the teams' medical departments about mouthguards, and the conducts adopted in cases of dental trauma during the match.
Material and methods
Closed questionnaires were sent to the physicians in charge of the medical departments of the 40 teams enrolled in the first and second divisions of the Brazilian professional soccer league in 2007. The data obtained were subjected to descriptive analysis to determine absolute and relative frequencies of answers for each one of the questions.
Results
Physicians from 38 (95%) of the 40 teams in the first and second divisions answered the questionnaires and 71.1% reported the occurrence of some type of dental injury during soccer practice, dental fractures (74.1%) and avulsions (59.3%) being the most prevalent ones. Regarding emergency conducts, approximately 50% answered that a successful replantation could be obtained in periods from 6 to 24 h after injury, and 27.8% were not able to answer this question. Regarding mouthguard use, 48.6% of the physicians did not know about mouthguards, and only 21.6% usually recommended their use by the soccer players. Among the physicians who do not recommend the use of mouthguards, 50% justified that it was not necessary. Almost 50% of the medical departments do not have a dentist as part of the health professional staff.
Conclusions
It was possible to conclude that dental injuries are common during professional soccer practice and that there is a lack of information in the medical departments related to the emergency conducts and prevention of dental trauma.
doi:10.1590/S1678-77572010000600007
PMCID: PMC3881765  PMID: 21308287
Athletic injuries; Soccer; Tooth injuries; Accident prevention; Mouthguards
18.  Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia 
Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been clarified. We report a newborn boy with CAH who presented brain white matter abnormality on MRI. He was diagnosed as having salt-wasting CAH with a high 17-OHP level at neonatal screening and was initially treated with hydrocortisone at 8 days of age. On day 11 after birth, he had a generalized tonic seizure. No evidence of serum electrolyte abnormalities was observed. Brain MRI revealed white matter abnormalities that consisted of bilateral small diffuse hyperintensities on T1-weighted images with slightly low intensity on T2-weighted images in the watershed area. Several factors associated with brain white matter abnormalities in adults with CAH, such as increasing age, hypertension, diabetes and corticosteroid replacement, were not applicable. Although the cause of the phenomenon in this case is unclear, brain white matter abnormality could be observed in newborn infants with CAH as well as in adult patients.
doi:10.1297/cpe.22.77
PMCID: PMC3809734  PMID: 24170965
aldosterone; brain white matter; congenital adrenal hyperplasia; magnetic resonance imaging; newborn infant
19.  Comparison of different glucocorticoid regimens in the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency 
Background:
There are recommendations regarding the total dose of hydrocortisone to be administered in the treatment of classical congenital adrenal hyperplasia (CAH) to achieve the twin objectives of glucocorticoid replacement and control of hyperandrogenism. However, there is evidence gap regarding the breakup, timing and type of the steroid regimen.
Objectives:
Efficacy of three different glucocorticoid regimens having the same total dose of steroid, differing in either the timing or type of evening steroid administered, in achieving biochemical control of the disease was assessed.
Materials and Methods:
The study was done in 13 prepubertal children with classical CAH over a 6-month period with 2 months devoted to each regimen. We used a prospective cross-over design using 10-15 mg/m2 total dose of hydrocortisone. Two-fifths of the total dose of hydrocortisone was administered in the morning and one-fifth of the total dose was administered at noon in all the regimens. The regimens differed in the timing of the evening dose of hydrocortisone, 06.00-07.00 pm in regimen 1 and 09.00-10.00 pm in regimen 2. The third regimen had the evening dose of hydrocortisone replaced by an equivalent dose of prednisolone suspension which was administered at 10.00 pm. Serum 17-hydroxyprogesterone and testosterone levels were compared to assess the efficacy of treatment regimens.
Results:
The three different regimens were found to be similar in their ability to control 17-hydroxyprogesterone and testosterone levels. The percentage of patients with predefined criteria for biochemically controlled disease was similar in all the three regimens. However, there was a trend toward better control of 17-hydroxyprogesterone levels in patients receiving evening dose of prednisolone.
Conclusions:
There is no significant advantage in administering the hydrocortisone dose late at night in patients with classical CAH.
doi:10.4103/2230-8210.141358
PMCID: PMC4192987  PMID: 25364676
Congenital adrenal hyperplasia; glucocorticoid; hydrocortisone; prednisolone; regimen
20.  Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase/17,20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism: First Case Report from Oman 
Oman Medical Journal  2014;29(1):55-59.
This is the first report of congenital adrenal hyperplasia (CAH) due to combined 17α-hydroxylase/17,20 lyase deficiency in an Omani patient who was initially treated for many years as a case of hypertension. CAH is an uncommon disorder that results from a defect in steroid hormones biosynthesis in the adrenal cortex. The clinical presentation depends on the site of enzymatic mutations and the types of accumulated steroid precursors. A 22-year-old woman who was diagnosed to have hypertension since the age of 10 years who was treated with anti-hypertensive therapy was referred to the National Diabetes and Endocrine Centre, Royal Hospital, Oman. The patient also had primary amenorrhea and features of sexual infantilism. Full laboratory and radio-imaging investigations were done. Adrenal steroids, pituitary function and karyotyping study were performed and the diagnosis was confirmed by molecular mutation study. Laboratory investigations revealed adrenal steroids and pituitary hormones profile in addition to 46XY karyotype that are consistent with the diagnosis of CAH due to 17α-hydroxylase deficiency. Extensive laboratory workup revealed low levels of serum cortisol (and its precursors 17α-hydroxyprogesterone and 11-deoxycortisol), adrenal androgens (dehydroepiandrosterone sulfate and androstenedione), and estrogen (estradiol); and high levels of mineralocorticoids precursors (11-deoxycorticosterone and corticosterone) with high levels of ACTH, FSH and LH. Mutation analysis revealed CYP17A1-homozygous mutation (c.287G>A p.Arg96Gln) resulting in the complete absence of 17α-hydroxylase/17,20-lyase activity. The patient was treated with dexamethasone and ethinyl estradiol with cessation of anti-hypertensive therapy. A review of the literature was conducted to identify previous studies related to this subtype of CAH. This is the first biochemically and genetically proven case of CAH due to 17α-hydroxylase/17,20-lyase deficiency in Oman and in the Arab World described in the literature.
doi:10.5001/omj.2014.12
PMCID: PMC3910417  PMID: 24498484
Congenital adrenal hyperplasia; 17 α-hydroxylase; 17,20-lyase; Hypertension; Pseudohermaphroditism; Adrenal cortex; Oman
21.  Testicular adrenal rest “tumor” or Leydig cell tumor? A report of a challenging case with literature review 
Avicenna Journal of Medicine  2013;3(1):15-19.
Congenital adrenal hyperplasia (CAH) refers to group of inherited diseases resulting from impaired adrenal steroidogenesis, and its most common cause is 21-hydroxylase deficiency. Testicular adrenal rest tumors (TARTs) are an important complication of CAH, which probably develop from ectopic remnants of intra-testicular adrenal tissue stimulated by Adrenocorticotropic hormone (ACTH) hypersecretion. These lesions are typically located within the rete testis and are bilateral, synchronous, nodular and multiple. TART usually, but not always, responses to suppressive medical therapy. TART leads to testicular structural damage, spermatogenesis disorders, infertility and most importantly, mass-forming lesions that could be mistaken for Leydig cell tumor (LCT). The later has a significantly different behavior with up to 10% of being malignant. Nowadays, due to advances in diagnosing and treating CAH, mass-forming TART is rarely encountered. As a result, there is the paucity in the medical literature regarding its features from pathological perspective. We herein present a case of mass-forming TART and we discuss the clinical, radiological, and morphological features as well as the major differential diagnosis of this rare lesion.
doi:10.4103/2231-0770.112789
PMCID: PMC3752856  PMID: 23984262
Leydig cell tumor; testicular adrenal rest tumor; testicular mass
22.  Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia. 
Journal of Medical Genetics  1996;33(5):371-375.
The majority of congenital adrenal hyperplasia (CAH) cases arise from mutations in the steroid 21-hydroxylase (CYP21) gene. Without reliance on HLA gene linkage analysis, we have developed primers for differential polymerase chain reaction (PCR) amplification of the CYP21 gene and the non-functional CYP21P gene. Using the amplification created restriction site (ACRS) approach for direct mutational detection, a secondary PCR was then performed using a panel of primers specific for each of the 11 known mutations associated with CAH. Subsequent restriction analysis allowed not only the detection but also the determination of the zygosity of the mutations analysed. Existing deletion of the CYP21 gene could also be detected. In the analysis of 20 independent chromosomes in 11 families of CAH patients in Taiwan, four CYP21 mutation types, besides deletion, were detected. Interestingly, in five different alleles, the CYP21P pseudogene contained some polymorphisms generally associated with the CYP21 gene. These results suggest gene conversion events that are occurring in both CYP21P and CYP21 genes. Our combined differential PCR-ACRS protocol is simple and direct and is applicable for prenatal diagnosis of CAH using chorionic villi or amniotic cells.
Images
PMCID: PMC1050604  PMID: 8733045
23.  Injuries in youth amateur soccer and rugby players—comparison of incidence and characteristics 
Objectives: In reviewing the literature on sports injuries, few studies could be found in which exposure related incidences of injury in different types of sport were compared. These studies indicated that ice hockey, handball, basketball, soccer, and rugby are popular team sports with a relatively high risk of injury. The aim of the study was to compare the characteristics and incidence of injuries in male youth amateur soccer and rugby players.
Methods: This prospective cohort study comprised an initial baseline examination to ascertain the characteristics of the players and their level of performance, and a one season observation period during which a physician visited the team weekly and documented all occurring injuries. Twelve soccer and 10 rugby school teams with male amateur players aged 14–18 years were selected for the study. 145 soccer and 123 rugby players could be followed up over one season.
Results: Comparison of the incidence of soccer and rugby injuries indicated that rugby union football was associated with a significantly higher rate of injury than soccer. The differences were pronounced for contact injuries, injuries of the head, neck, shoulder, and upper extremity, as well as for concussion, fractures, dislocations, and strains. Rugby players incurred 1.5 times more overuse and training injuries in relation to exposure time, and 2.7 times more match injuries than soccer players. Three rugby players but no soccer players had to stop their participation in sport because of severe injury.
Conclusion: The incidence of injury in New Zealand school teams playing soccer or rugby union is high, probably in part because of the low ratio of hours spent in training relative to hours spent playing matches. The development and implementation of preventive interventions to reduce the rate and severity of injury is recommended.
doi:10.1136/bjsm.2002.003020
PMCID: PMC1724792  PMID: 15039253
24.  Congenital lipoid adrenal hyperplasia 
Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder.
doi:10.6065/apem.2014.19.4.179
PMCID: PMC4316413  PMID: 25654062
Steroidogenic acute regulatory protein; Lipoid congenital adrenal hyperplasia; Cholesterol side-chain cleavage enzyme
25.  Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia 
The treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is complex. In addition to disease control, important therapeutic goals are the maintenance of normal growth and the acquisition of normal reproductive function. Here, data regarding final adult height (FH) in patients with CAH will be reviewed. Additional difficulties associated with CAH, including risks of obesity and hypertension, will be discussed. Information about fertility and reproductive outcomes in men and women with CAH will also be summarized. Although the treatment of each child with CAH needs to be individualized, close medical followup and laboratory monitoring along with good compliance can often result in positive clinical outcomes.
doi:10.1155/2010/298937
PMCID: PMC2817857  PMID: 20148087

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