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 pathological and eventually genetic diagnosis. They range from simple small penis and labial adhesions to the complex genital ambiguity and disorders of sex development.
Hypothesis: To determine the genital abnormalities presenting in the Paediatric endocrinology unit of the University of Port Harcourt Teaching Hospital.
Patients and methods: A retrospective cohort review of all children presenting to the Endocrinology unit of the Department of Paediatrics, UPTH with genital abnormalities was undertaken from 1stof January 2013 to 31stof December 2017. The evaluation of the children include detailed history, physical examination, place of birth, age and sex of rearing at presentation, clinical presentation, investigations, management and outcome of treatment/follow up.
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 commonest diagnosis was micropenis (32.2%) with various forms of DSD being the second commonest (29%) and most females had labial fusion (16.1%). Females with labial fusion had complete resolution following oestrogen cream application, and 4 of the 7 children with DSD died.
Conclusion: Making diagnosis and managing complex genital abnormalities like DSD in UPTH remain challenging because of lack of diagnostic equipment and drugs but simpler conditions have better and long term outcome.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology