Genital abnormalities and management outcomes as seen in the university of port harcourt teaching hospital, Nigeria

Abstract

Background: Genital abnormalities are a source of concern and anxiety to parents and patients and in some cases, for the physicians who may have difficulty making the pathological and eventually genetic diagnosis. They range from simple small penis and labial adhesions to complex genital ambiguity and disorders of sex development (DSD). Aim: The aim is to determine the genital abnormalities presenting in the Paediatric endocrinology unit of the University of Port Harcourt Teaching Hospital. , Materials and Methods: A retrospective cohort review of children presenting to the Endocrinology unit of the Paediatrics Department with genital abnormalities was undertaken from January 1, 2013, to December 31, 2017. The evaluation of the children included detailed history, physical examination, age and sex of rearing at presentation, clinical presentation, investigations, management, and outcome of treatment. Results: There were 31 children presenting with genital abnormalities of various kinds. Sex assigned to these children was 8 females and 23 males irrespective of complete pathological diagnosis. The median age of presentation was 13 months with a range of 0.1–168 months. The most common diagnosis was micropenis (32.2%) with various forms of DSD being the second‑most common (29%) and most females had labial fusion (16.1%). Females with labial fusion had complete resolution following estrogen cream application, and 4 of the 7 children with DSD died. Conclusion: Making diagnosis and managing complex genital abnormalities like DSD in UPTH remains challenging because of the lack of diagnostic equipment and drugs, but simpler conditions have better and long‑term outcomes.