Prevalence of Adrenal Steroid Hormone Abnormalities Among Patients With Disorders of Sexual Differentiation, and Clinical Characteristics of Patients With Disorders of Sexual Differentiation at Kenyatta National Hospital

Abstract

Background: Disorders of sexual differentiation (DSDs) are characterised by a congenital difference between the external genitalia and the chromosomal sex. There are many causes of DSD. Studies have shown that Congenital Adrenal Hyperplasia (CAH), a group of genetic disorders characterized by enzyme defects in the adrenal steroid genesis pathway, resulting in testosterone defects is one of the most common cause of DSDs. In this study, we sought to determine the prevalence of adrenal steroidogenesis enzyme deficiencies (CAH) among patients with DSDs at Kenyatta National Hospital, and describe the clinical characteristics of patients with DSDs. Methodology Patients on follow-up for DSD at KNH (paediatric endocrine clinics, the paediatric and surgical clinics and inpatients) including those born at KNH or who were newly referred to KNH were invited to participate in the study. Participants were identified during their routine clinic visits either as new or on ongoing follow-up, and in in-patient wards. All study participants provided written informed consent. Participants underwent a questionnaire- guided interview, clinical history and a full clinical examination. Blood samples were drawn from each participants through dried blood spot for molecular diagnosis. Molecular testing for genetic abnormalities was carried out at the Centogene Laboratory in Germany. Results: Prevalence of adrenal steroidogenesis abnormalities among patients with DSD was 15%. Majority of patients with CAH among DSD patients had 21-hydroxylase enzyme deficiency (5; 71%). The common clinical characteristics at presentation were poor weight gain (23%), and delayed milestones (20%). The most common physical findings were absence of a phallus or a small phallus in the males and the presence of a phallus among female participants. Common laboratory abnormalities were low sodium (27%) and high potassium (30%). Conclusion: Prevalence of CAH among DSDs in this population is lower than that reported in studies in other settings. While not the most common, CAH is still an important cause of DSD and further studies are needed to identify other causes of DSD