Objective: The purpose of this study was to describe baseline data on etiological diagnosis of Disorders of Sex Development (DSD) in Kenyan children and adolescents.
Methods: This retrospective study included 71 patients diagnosed with DSD who presented at ages 019 years from January 2008 to December 2015 at the Kenyatta National (KNH) and Gertrudes Childrens (GCH) Hospitals.
Results: Thirty-nine (54.9%) children had karyotype testing done. The median age (IQR) of children with reported karyotypes and those without was 3.3 years (1.38.9) and 8.3 years (3.612.1), respectively (P=0.021). Based on the new DSD nomenclature 19 (48.7%) of karyotyped children had 46,XY DSD and 18 (46.2%) had 46,XX DSD. There were 2 (5.1%) children with sex chromosome DSD. Among the 71 patients, 10 (14.1%) patients had a diagnosis of ovotesticular DSD based on histology results and 8 (11.3%) were diagnosed with Congenital Adrenal Hyperplasia (CAH) based on the presence of müllerian structures and elevated 17-hydroxyprogesterone levels. One of these patients had salt-wasting CAH. A diagnosis of 5α-reductase deficiency was made in 2 patients based on normal testosterone (T) levels, low or normal dihydrotestosterone (DHT) levels and a high T/DHT ratio after human Chorionic Gonadotropin (hCG) stimulation test. One patient was diagnosed with Partial Androgen Insensitivity Syndrome based on a 46,XY karyotype, absence of mŰllerian structures and normal T and DHT response to hCG stimulation. Twenty-four patients underwent genitoplasty/urethroplasty while 9 patients underwent orchidopexy. Two patients with ovotesticular DSD who were assigned male gender underwent oophorectomy while one with ovotesticular DSD assigned a female gender underwent bilateral gonadectomy. No patient was found to have a gonadal tumour.
Conclusion: The commonest cause of DSD was ovotesticular DSD in contrast to western studies which found CAH to be more common. Investigation of DSD cases is expensive and needs to be supported. We would have liked to do molecular genetic analysis outside the country but local regulations made it impossible. A network for detailed diagnostics in resource limited countries would be highly desirable
27 - 29 Sep 2018
European Society for Paediatric Endocrinology