[Progress in researches on 46, XY disorders of sexual development].

46, XY disorders of sexual development (46, XY DSD) are a group of complicated clinical conditions, which involve medical care, society, ethics and many other aspects. As chronic diseases, they necessitate long-term or even lifelong physical and mental follow-up and treatment. Early diagnosis and reasonable treatment could not only achieve appropriate development of the secondary sexual characteristics, but also effectively prevent gonadal malignancy. In recent years, environment pollution and other factors are contributing to the increasing incidence of 46, XY DSD all over the world. A deeper clinical insight into these disorders helps their earlier diagnosis and maximum improvement of prognosis. The etiology, new classification and treatment of 46, XY DSD are reviewed in this article.

Disorders of sexual development: an overview of 18 years experience in the pediatric Endocrinology Department of Ankara University.

INTRODUCTION: Disorders of sexual development (DSD) occur when the appearance of the internal and/or external genitalia is at variance with normal development for either sex. We reviewed the characteristics of patients with DSD. PATIENTS: Two hundred and eight children aged from newborn to 19 years with DSD from 1990 to 2008. RESULTS: 46,XY DSD (52.4%) was more common than 46,XX DSD (34.6%) and gonadal differentiation disorders (12.99%). Thirty-six (33.02%) patients were diagnosed with androgen resistance syndrome, 41 (37.61%) had 5alpha-reductase deficiency, 23 (21.10%) had testosterone synthesis disorders. Congenital adrenal hyperplasia was the most frequent underlying cause of 46,XX DSD. CONCLUSION: There are many difficult aspects in the diagnosis and management of DSD. Gender assessment teams of endocrine centers need a multidisciplinary approach for the diagnosis, medical and surgical treatment, genetic counseling, and psychosocial support of these patients.