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International Journal of Preventive Medicine (1)
Iranian Journal of Pediatrics (1)
Journal of Research in Medical Sciences : The Official Journal of Isfahan University of Medical Sciences (1)
Hashemipour, Mahin (3)
Hovsepian, Silva (2)
Ghasemi, Mahmoud (1)
Hekmatnia, Ali (1)
Kelishadi, Roya (1)
Mahzouni, Parvin (1)
Moaddab, Mohammad Hassan (1)
Nazem, Masoud (1)
Rostampour, Noushin (1)
Salek, Mehdi (1)
Year of Publication
A Case of Congenital Lipoid Adrenal Hyperplasia
International Journal of Preventive Medicine
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.
46XY; failure to thrive; lipoid congenital adrenal hyperplasia
A Case of Atypical McCune-Albright Syndrome with Vaginal Bleeding
Iranian Journal of Pediatrics
McCune-Albright syndrome (MAS) is a rare non-inherited disorder characterized by the clinical triad of precocious puberty, cafe-au-lait skin lesions, and fibrous dysplasia of bone.
We report a girl with MAS, presenting initially with vaginal bleeding at the age of 17 months. Ultrasonography revealed unilateral ovarian cysts and ureteral and ovarian enlargement. Considering the clinical and paraclinical findings, the patient diagnosed as a case of gonadotropin-independent precocious puberty was treated with medroxy-progestrone acetate (MPA) for three months. During the follow up, recurrent episodes of bleeding, ovarian activation and cyst formation, as well as breast size development were reported. At the age of 5.5 years, fibrous dysplasia was detected, which in coexistence with precocious puberty confirmed the diagnosis of MAS. The patient had no cafe-au-lait skin macles during follow up.
Considering that clinical manifestations of MAS appear later in the course of recurrent periods of ovarian activation and cyst formation, a careful clinical observation and follow up of patients is necessary and the diagnosis of MAS must be kept in mind in cases with gonadotropin-independent precocious puberty.
McCune-Albright Syndrome; Bleeding; Fibrous Dysplasia of Bone; Precocious Puberty
Granulosa cell tumor in a six-year-old girl presented as precocious puberty
Moaddab, Mohammad Hassan
Journal of Research in Medical Sciences : The Official Journal of Isfahan University of Medical Sciences
Ovarian sex cord-stromal tumors, including granulose cell tumors (GCTs), are a group of neoplasms that occur rarely, especially in children. Only 0.1 percent of all ovarian tumors and 4-5 percent of GCTs occur in children. The most common presentation of these tumors in children is precocious puberty. We report a 6 years old girl with isosexual precocity, presented as premature thelarche and vaginal bleeding. Ultrasonography of pelvis showed a hypoechoic solid mass of left ovary.
Microscopic features of the resected mass were characteristic of juvenile GCT. Although in most of girls with precocious puberty, the etiology is idiopathic, important causes, such as ovarian tumors must be considered.
Granulosa Cell Tumor; Puberty; Children
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