Disorders of sex development: Challenges in a low-resource country

• Published in: Archives de pédiatrie : organe officiel de la Société française de pédiatrie Vol. 30; no. 1; pp. 10 - 13
• Main Authors: Ehua, A.M., Moulot, M.O., Agbara, K.S., Enache, T., Bankole, S.R.
• Format: Journal Article
• Language: English
• Published: France Elsevier Masson SAS 01-01-2023
• Subjects: Androgens; Challenges; Child; Disorders of Sex Development - diagnosis; Disorders of Sex Development - epidemiology; Disorders of Sex Development - genetics; Disorders of sexual development; Female; Genitalia; Humans; Low-resource country; Male; Retrospective Studies; Urogenital Surgical Procedures - methods; Disorders of sexual development; Challenges; Low-resource country
• ISSN: 0929-693X; 1769-664X
• DOI: 10.1016/j.arcped.2022.09.002

We aimed to identify the challenges in the management of sexual development abnormalities in a low-resource country.
The study was retrospective from January 2000 to December 2017 based on patient records from two pediatric surgery departments. Epidemiological, clinical, paraclinical, treatment, and outcome data were studied.
We collected data on 13 patients (average age = 7.95 years). The sex of rearing was as follows: three females (23%), 10 males (77%). Atypical genitalia other than hypospadias represented the reason for consultation in 92% of the cases. We could not find complete hormonal analyses; testosterone levels were studied in 69.23% of cases. We found the following disorders of sexual development (DSD): four patients with 46,XX karyotype (30.77%), eight patients with 46,XY karyotype (61.53%), and one patient with 46,XX/XY karyotype. Four patients had medical treatment only, four had surgical treatment only, and one patient had medical and surgical treatment. The medical treatment comprised topical administration of androgen. The surgical treatment consisted of feminizing genitoplasty for one patient and masculinizing genital surgeries for two patients. Six of the 13 patients were lost to follow-up.
The socioeconomic difficulties of the population and the lack of access to basic diagnostic and paraclinical methods, coupled with the negative cultural representations of the pathology, constitute the challenges in the management of DSD in our practice.