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1.  A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar 
•The clinical presentation of mixed gonadal dysgenesia is known as criptorcidism and undesending testis.•Mixed Gonadal Dysgenesia with mosaism 45, X/46, X, +mark karyotype are rare case.•We present a rare patient case with mixed gonadal dysgenesis as a disorder of sex development (DSD) and a new pattern of chromosome in the karyotype, undergoing laparoscopic procedure for sex correction.
We present a rare patient case with mixed gonadal dysgenesis as a disorder of sex development (DSD) and a new pattern of chromosome in the karyotype, 45, X/46, X, +mar(Y).
Presentation of case
A ten-year-old boy, raised in a nursery center, presented with ambiguous genitalia. Two cell lines, (45, X) and [46,X, +mar(Y)] were observed utilizing cytogenetic investigation including fluorescence in situ hybridization (FISH) which were carried out on his peripheral lymphocytes. A significantly higher percentage (75%) of Y-containing cells was observed in the blood, which could be considered the major reason why the case did not have distinct ambiguous genitalia. A further explorative laparoscopic procedure was performed, during which orchiectomy was performed, and remnants of Müllerian duct were excised.
A complete and sufficiently careful medical evaluation and genetics counseling of neonates is highly recommended in order to avoid any delayed insufficient diagnostic, conservative, and therapeutic care in children living with guardians rather than their biological parents. Both molecular and cytogenetic studies are recommended in some DSDs to help early diagnosis of the disease, which is important for further essential surgical approaches.
Cytogenetic studies followed by a laparoscopic exploratory and surgical survey are helpful tools for unraveling the mosaicism involving sex chromosomes and the complicated process in mixed gonadal dysgenesis patients.
PMCID: PMC4336434  PMID: 25569267
MGD, mixed gonadal dysgenesis; mark, mar; TH, true hermaphroditism; AMH, anti-Müllerian hormone; UDT, undescended testis; SRY, sex determined region of Y chromosome; kg, kilogram; cm, centimeter; EMS, external masculinization scores; HRT, hormone replacement therapy; HCG, human chorionic gonadotropin; IGF-I, insulin like grows factor 1; PCR, polymerase chain reaction; GTG, generate test generator; MPH, mid-parental height; GH, growth hormone; Mixed gonadal dysgenesis; Karyotype; Laparoscopic surgery
2.  Laparoscopic Adrenalectomy for Pheochromocytoma in a Child 
Pheochromocytoma is a catecholamine-secreting tumor of the adrenal medulla. It has wide and subtle range of clinical manifestations including sustained hypertension in about 1% of pediatric patients. Although laparoscopic adrenalectomy is the gold standard treatment method in adult patients, few reports have described this technique in children. We report a child with unilateral pheochromocytoma who presented with poor weight gain, polyuria and polydipsia. Diagnosis was based upon clinical and laboratory evaluation. She was treated successfully by laparoscopic adrenalectomy.
PMCID: PMC3525284  PMID: 23277884
Adrenalectomy;  Laparoscopy;  Pheochromocytoma
3.  Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran 
Background. Thyroid peroxidase gene (TPO) mutations are one of the most common causes of thyroid dyshormonogenesis in patients with congenital hypothyroidism (CH). In this study, the prevalence of TPO gene mutations in patients with thyroid dyshormonogenesis in Isfahan was investigated. Methods. In this cross-sectional study, genomic DNA of 41 patients with permanent CH due to thyroid dyshormonogenesis was extracted using the salting out method. The 17 exonic regions of the TPO gene were amplified. SSCP technique was performed for scanning of the exonic regions of the TPO gene, except exon 8. DNA sequencing was performed for those with different migration patterns in SSCP by chain termination method. Exon 8 was sequenced directly in all patients. In 4 patients, all fragments were also sequenced. Results. One missense mutation c.2669G > A (NM_000547.5) at exon 15 (14th coding exon) in one patient in homozygous form and seven different single nucleotide polymorphisms (SNPs) in exons 1, 7, 8, 11, and 15 of TPO gene. Conclusion. The TPO gene mutations among CH patients with dyshormonogenesis in Isfahan were less frequent in comparison with other similar studies. It may be due to the presence of other unknown gene mutations which could not be detected by SSCP and sequencing methods.
PMCID: PMC3419406  PMID: 22919382
4.  Association between Serum Ferritin and Goitre in Iranian School Children 
Despite long-standing supplementation of iodine in Iran, the prevalence of goitre among general people remains high in some regions. The study investigated the role of iron status in the aetiology of goitre in school children in Isfahan, Iran. Two thousand three hundred and thirty-one school children were selected by multi-stage random sampling. Thyroid size was estimated by inspection and palpation. Urinary iodine concentration (UIC) and serum ferritin (SF) were measured. Overall, 32.9% of the children had goitre. The median UIC was 195.5 μg/L. The mean±SD of SF in the goitrous and non-goitrous children was 47.65±42.51 and 44.55±37.07 μg/L respectively (p=0.52). The prevalence of iron deficiency in goitrous and non-goitrous children was 9.6% and 3.1% respectively (p=0.007). Goitre is still prevalent in school children of Isfahan. However, their median UIC was well in the accepted range. Iron deficiency is associated with goitre in a small group of goitrous children. The role of goitrogens should also be investigated in this region.
PMCID: PMC2980875  PMID: 20411676
Cross-sectional studies; Goitre; Iodine; Iron deficiency; Serum ferritin; Iran
5.  Pamidronate therapy for hypercalcemia and congenital mesoblastic nephroma: a case report 
Cases Journal  2009;2:9315.
Hypercalcemia can causes life threatening complications. We report an infant with severe hypercalcemia due to congenital mesoblastic nephroma. Hypercalcemia was corrected before nephrectomy by pamidronate. According to our knowledge this is a rare case with severe neoplasm induced hypercalcemia among neonates who treated by bisphosphonates. The aim of this report is to define new approach to neoplasm induced neonatal hypercalcemia.
PMCID: PMC2803978  PMID: 20062638

Results 1-5 (5)