The Ovotesticular Disorder of Sexual Development (OT DSD) is a rare condition characterized by histologic demonstration of both ovarian and testicular tissue in the same individual. Descriptions in literature usually have small samples and do not include patient evolution data. The aim of this study is to describe clinical, biochemical and histological findings, as well as long-term outcomes (including onset and progression of puberty) in patients with OT DSD, accompanied between 1978 and 2018, at the Instituto da Criança do Hospital das Clínicas da FMUSP, São Paulo-Brazil. It is a retrospective non-interventional unicentric study in which thirty-one patients were included. The mean age of the first visit was 32.1 months; the majority of the patients had initial male sex (54.8%) and the majority had final female sex (54.8%). The mean phallus size was 2.5 cm, there were palpable gonads in 67.7% and the urethra was perineal in 74.2% of the patients. The mean testosterone value was 245.4 ng/dL. The number of surgeries was 2.76 per patient. The most frequent karyotype was 46,XX (58.1%), followed by mosaics (25.8%). Mullerian structures were present in 74.2% of the patients. The most frequent gonad was ovotestis (48.4%) and the most common combination was ovotestis + ovary (38.7%). It was possible to evaluate puberty in 19 (61.3%) of the 31 patients. Of these, 12 went on spontaneous puberty. The mean age of pubertal onset was 12 years. This is a significant sample of OT DSD patients, with phenotypic and genotypic data compatible with literature. OT DSD remains a challenge for clinicians and the evolution of these patients in terms of puberty is still not properly explored in current literature.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology