17-Alpha hydroxylase deficiency: An unusual cause of secondary amenorrhoea

Australian and New Zealand Journal of Obstetrics and Gynaecology 2004; 44: 477– 478

Case Report

Blackwell Publishing, Ltd.

Secondary amenorrhoea - an unusual case

17-Alpha hydroxylase deficiency: An unusual cause of secondary amenorrhoea Jim PHILIP, ANJALI, Nihal THOMAS, Simon RAJARATNAM and Mandalam S. SESHADRI Department of Endocrinology, Christian Medical College Vellore, Tamil Nadu, India

Introduction 17-alpha hydroxylase deficiency is an uncommon cause for congenital adrenal hyperplasia, which was first recognised in 1966.1 This disorder results in a decreased production of cortisol, androgens and oestrogens with a subsequent increase in adrenocorticotrophic hormone (ACTH) and gonadotrophin levels. High ACTH levels contribute to increased production and accumulation of 17 deoxycorticosteroids, especially deoxycorticosterone.2 Patients present with hypertension, hypokalaemia, and normal or suppressed aldosterone, with primary amenorrhoea in females and pseudohermaphroditism in males.3

Case report A 43-year-old housewife was referred to our centre to rule out the possibility of primary hyperaldosteronism. She was born of non-consanguineous parentage and initially presented at the age of 17 years with secondary amenorrhoea. She had attained menarche at the age of 16 years but had irregular scanty uterine bleeding for three cycles. Subsequently she began taking the oral contraceptive pill on which she had two to three regular cycles. She discontinued this medication following the early demise of her husband. She remained amenorrhoeic and did not pursue further investigations. Twenty-six years later, at the age of 43 years, she presented with severe proximal myopathy, occasional carpopedal spasms and fatigue of 2 months duration. She had an antecedent respiratory infection, which resolved with antibiotics. Clinical examination revealed severe proximal myopathy, mild hypertension (150/100 mmHg), severe hypokalaemia (