Disorders of Sexual Development: An Overview of 18 Years Experience in the Pediatric Endocrinology Department of Ankara University

Abstract

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 5α-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.

Disorders of sex development in a developing country: perspectives and outcome of surgical management of 39 cases

“…The short-term outcomes relate mostly to the physical appearance and functionality of the genitalia to the patient, the parents, and the surgeon [2,15,20,22]. In this aspect the outcome in the present report compares with the results of treatment previously reported [15,20,22,38].…”

“…The operative procedures undertaken on our cases did not differ from the procedures reported elsewhere [2,4,6,15,20,22,28]. In patients assigned female gender the procedure involves removal of all testicular tissues, and depending on the degree of virilization staged genital repair is undertaken.…”

“…In most of the reported large series, 46, XX DSD was indicated as the commonest type of DSD [15][16][17][18]. However, in some reports [3,19,20], cases of 46, XY DSD outnumbered the other types of DSD. These variations may reflect deficiencies of representative patient sampling, or more likely it may be the result of the new DSD classification system leading to expanded clinical spectrum of the disease with a change in the distribution of etiological diagnoses of DSDs [3].…”

“…These variations may reflect deficiencies of representative patient sampling, or more likely it may be the result of the new DSD classification system leading to expanded clinical spectrum of the disease with a change in the distribution of etiological diagnoses of DSDs [3]. The other types of DSD such as ovotesticular DSD, 46, XY ovotesticular DSD, and 46, XX complete gonadal dysgenesis are relatively rare [3,15,18,20,21]. The precise distribution of these latter types is challenging because of the variable phenotype, and the fact that full elucidation of the nature of the gonads and molecular genetic analyses are needed [1,2,21].…”

Current Concepts in Disorders of Sexual Development

“…A family history, prenatal history, a general physical examination with attention to any associated dysmorphic features, and an assessment of the genital anatomy are the first steps towards a correct diagnosis. The diagnostic evaluation of DSD includes hormone measurements, imaging, cytogenetic and molecular studies and in some cases endoscopic, laparoscopic and gonadal biopsy (6,7,8,45,46,50,51,52,53,54,55). The genetic evaluation includes karyotype, FISH and, more recently, specific molecular studies to screen the presence of mutations or gene dosage imbalance (AR, SRY, SF1, WT1, CYP21, SOX9, DAX-1, 17b hydroxysteroid dehydrogenase, 5a-reductase-2, and others).…”