ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2006) 11 P732

Clinical presentation of a patient with novel mutation in CYP17 gene

LK Dzeranova, AN Tiulpakov, EA Pigarova, AV Voroncov & AM Artemova

Research Centre for Endocrinology, Moscow, Russia.

The aim of this publication is to address an attention to possible misdiagnosis in patients with 17-alpha-hydroxylase deficiency.

A 24 year old woman was admitted to our Centre with diagnosis of aldosteroma (aldosterone – 486 pmol/l (22–478), hypertension, hypokaliemia, adrenal mass (d–2.2 sm) defined by ultra sound). At the age of 15 years the patient was diagnosed with testicular feminisation as the cause of absent puberty (karyotype – XY, elevated LH and FSH), a year later gonadectomy was performed, since then the woman was on oestrogen/gestogen therapy. There were 2 episodes of severe hypokaliemia at ages 20 and 24 misdiagnosed as myocarditis and myasthenia, respectively. Later investigation did not confirm these diagnoses.

At the presentation the patient had eunuchoid stature, muscle weakness, blood pressure 140/100 mm Hg on antihypertensive therapy (lisinopril 10 mg/day, spironolactone 150 mg/day), which along with lab data (K–3.31 mmol/l, ACTH–149 pg/ml, cortisol in blood–44.6 nmol/l, free cortisol in 24 hour urea –<36 nmol/l, testosterone – 0.3 pmol/l) and data of MRI (adrenal hyperplasia) helped us to suspect the diagnosis of 17-alpha-hydroxylase deficiency. The subsequent genetic analysis revealed compound heterozygocity for 2 mutations: deletion of 2 nucleotides CT in codon S117 (S117delCT) and substitution Arginin to Histidin in codon 440 (R440H) from which S117delCT mutation is novel.

After initiation of prednisolone at dose of 5 mg/day muscle strength dramatically improved, blood pressure remained at the level 110/70 mm Hg without any therapy, K level normalized.

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