Pseudohermaphroditism due to congenital adrenal hyperplasia - a case report
Date
2004
Authors
Fasanmade, O.A
Ohwovoriole, A.E
Isiavwe, A.R.
Journal Title
Journal ISSN
Volume Title
Publisher
Endocrine and Metabolism Society of Nigeria
Abstract
Background: Congenital adrenal hyperplasia [CAH] due to 21-hydroxylase deficiency is the most common cause of ambiguous genitalia. The hypertensive form is due to 11B – hydroxylase deficiency. The purpose of this report is to apprise clinicians of the presentation of this form of CAH.
CASE REPORT: A 17- year old female Nigerian presented with the history of a ‘male’ phallus that was first noticed 3 years prior to presentation. Menarche was at age 14. There was no menstrual irregularity. She was apparently female at birth and was circumcised in early childhood. Her development milestones were normal. Her height was 1.60m and weight was 46.2kg. BMI was 18kg/m2. Virilising features accompanied the presence of the phallus. Her breasts were small. Genital examination revealed clitoromegaly. The labia minora were hypo plastic. The vestibule with vaginal orifice and well – formed hymen were present. She was hypertensive with clinical features of hypertensive heart disease. Hormone profile showed elevated testosterone to 3.9ng/ml [0.2-0.8 = females]. Elevated Dhea-sulphate [17 ketosteroids]-6, 400 ng/ml [700-3900,F]. The 17 OH progesterone was 3.71nmol/L [F-0.45 -3.3]. Cortisol was 192.0 nmol/L [a.m -171 -536, p.m – 64- 340]. Serum electrolytes were normal. Pelvic USS was normal. She was placed on glucocorticoids and lisinopril.
Conclusion: CAH is an uncommon but recognized cause of hypertension and should be considered in the differential diagnosis of young patients with hypertension and virilisation.
Description
Staff publications
Keywords
Pseudohermaphroditism , Congenital adrenal hyperplasia [CAH] , genitalia , Male’ phallus , Research Subject Categories::MEDICINE
Citation
Isiavwe, A.R., Fasanmade, O.A. and Ohwovoriole AE. (2004). Pseudohermaphroditism due to congenital adrenal hyperplasia - a case report. African Journal of Endocrinology and Metabolism, 5(1):36.