The earlier described mutation (c.307C>T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype

Articles in the same Issue

1. Masthead
2. Masthead
3. Reviews
4. Growth failure in children with cystic fibrosis
5. Approach to the management of slipped capital femoral epiphysis and primary hyperparathyroidism
6. Original Articles
7. Thyroid developmental anomalies among first-degree relatives of children with thyroid dysgenesis and congenital hypothyroidism
8. TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis
9. When to operate on ovarian cysts in children?
10. Partial anomalous pulmonary venous return is common in Turner syndrome
11. Uterine development in patients with Turner syndrome: Relation to hormone replacement therapy and karyotype
12. Ovarian and uterine ultrasonography and relation to puberty in healthy girls between 6 and 16 years in the Turkish population: a cross-sectional study
13. Assessment of gonadal function in boys and adolescents at the diagnosis of neoplastic disease
14. Environmental and genetic factors influence age at menarche in women with polycystic ovary syndrome
15. Vitamin D status in children with Hashimoto thyroiditis
16. Non-invasive measurement of adrenal response after standardized exercise tests in prepubertal children
17. Bone metabolism biomarkers, body weight, and bone age in healthy Brazilian male adolescents
18. Safety and efficacy of a 1-year treatment with zoledronic acid compared with pamidronate in children with osteogenesis imperfecta
19. Evaluation and comparison of safety, convenience and cost of administering intravenous pamidronate infusions to children in the home and ambulatory care settings
20. Clinical profile and etiologies of children with central diabetes insipidus: a single-center experience from Turkey
21. Audiologic evaluation in pediatric patients with type 1 diabetes mellitus
22. An after-school dance and lifestyle education program reduces risk factors for heart disease and diabetes in elementary school children
23. Evaluation of neutrophil gelatinase-associated lipocalin in normoalbuminuric normotensive type 1 diabetic adolescents
24. The association of serum lipocalin-2 levels with metabolic and clinical parameters in obese children: a pilot study
25. Metabolic disorders in vertically HIV-infected children: future adults at risk for cardiovascular disease
26. Ghrelin and growth hormone secretagogue receptor (GHSR) genes are not commonly involved in growth or weight abnormalities in an Israeli pediatric population
27. Patient Reports
28. Splenogonadal fusion and sex reversal
29. The earlier described mutation (c.307C>T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype
30. Sertoli cell tumor and intratubular germ cell neoplasia located in separate gonads in an adolescent patient with complete androgen insensitivity: a case report and review of literature
31. Seizure due to somatostatin analog discontinuation in a case diagnosed as congenital hyperinsulinism novel mutation
32. Simultaneous onset and similar course of type 1 diabetes mellitus in monozygotic twins (a 4-year follow-up)
33. 17β-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17βHSD3 gene
34. Clinical and image-guided chorioretinal findings in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
35. Influence of HLA DQ 2/8 genotypes in predisposing type 1 diabetes in siblings of a Saudi family with paternally inherited chromosomal translocations
36. An unusual association between growth hormone deficiency and a middle cranial fossa arachnoid cyst
37. Type 2 diabetes mellitus in a young girl: ominous presentation and atypical course
38. Marked increase of final height by long-term aromatase inhibition in a boy with idiopathic short stature
39. A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney
40. Persistent hyperinsulinemic hypoglycemia of infancy
41. Septo-optic dysplasia and hemophagocytic lymphohistiocytosis in an infant
42. Primary familial hypomagnesemia syndrome: a new approach in treatment
43. A case of congenital hypothyroidism in PHACE syndrome
44. Short Communication
45. Is vitamin D deficiency a feature of pediatric celiac disease?
46. Letters to the Editor
47. Authors’ reply to “The appropriate use of sensitive tests of hypothalamic-pituitary-adrenal axis suppression”
48. Diagnosis of non-alcoholic fatty liver disease in obese children
49. Meetings
50. Meetings Calendar