The prevalence of adults with DSD conditions at risk of hypogonadism in the international disorders of sex development registry.

Abstract

Objectives: Disorders of Sex Development (DSD) can be associated with impaired sex hormone synthesis or action. To date however knowledge regarding the prevalence and outcomes of affected adults is unclear. Method(s): The I-DSD Registry was interrogated for anonymised information regarding the diagnosis, karyotype and sex of rearing of all individuals of any karyotype who were over the age of 16 years at the time of search and who had one of the following disorders that may lead to long-term hypogonadism: androgen action, androgen synthesis; gonadal dysgenesis; Leydig cell hypoplasia; persistent Mullerian duct syndrome or a non-specific disorder of undermasculinisation. Result(s): At the time of search in January 2017, of a total of 2,141 cases were accessible on the I-DSD Registry. A total of 1,068 (50%) of these cases were currently over the age of 16 years (median 27 (range 16, 90) years). Of these, 614 (57%) had one of the conditions described in the methods. The frequency of conditions reported is summarised in the table. The cases were registered from 34 different centres in 21 different countries, over 4 continents. 207 (34%) (median age 25 years, range 17-75 years) of these individuals were currently registered male. 407 (66%) individuals were currently registered as females (median age 28 years, range 16-90 years). Gonadectomy had been reported on the Registry in 145 cases (24% of total); 16 men (8% of total men) and 77 women (19% of total women). The cases of gonadectomy included CAIS (23, 16%), complete gonadal dysgenesis (21, 14%), partial gonadal dysgenesis (14, 10%) PAIS (11, 8%) non-specific disorders of undermasculinisation (8, 6%), 5 alpha reductase deficiency (4, 3%), 17b-HSD deficiency (3, 2%), Leydig cell hypoplasia (2, 3%) and other (5, 3%). Conclusion(s): The I-DSD Registry contains a large number of young adults who are at risk of hypogonadism and provides an opportunity to study the effectiveness of current therapeutic interventions and explore novel methods of treating hypogonadism. (Table Presented).