ECE2016 Eposter Presentations Adrenal cortex (to include Cushing's) (85 abstracts)
Identified mutations in CYP11B1 gene in two Tunisian patients with 11-beta hydroxylase deficiency
Houda Ennaifer 1 , Ines Kammoun 1 , M Kharrat 2 , Nessrine Cheikrouhou 1 , Maria Khatib 1 , M Trabelsi 3 & Claude Ben Slama 1
1Department of Endocrinology and Metabolic Diseases, National Institute of Nutrition, Tunis, Tunisia; 2Laboratory of Human Genetics, University of medicine of Tunis, Tunis, Tunisia; 3Department of Congenital and Hereditary Diseases, Charles-Nicolle Hospital, Tunis, Tunisia.
Introduction: 11β-Hydroxylase deficiency (11β-OHD), caused by CYP11B1 mutations, is characterized by hyporeninemic, hypokalemic hypertension and hyperandrogenism. We studied the mutations of CYP11B1 gene in two patients with classic 11β-OHD.
Observations: We present the first case of a 23 year old boy with preliminary diagnosis of 21 β-OHD diagnosed at the age of 10. The patient presented with hypertension and hypokalemia which were against the diagnosis of 21 β-OHD. The physical examination showed microgenitalia with no palpable gonads. The patient’s karyotype was 46 XX. Cortisol level was normal. Deoxycorticosterone, corticosterone, DHEA and 17OH-progesterone were markedly elevated. The hypothesis of 11β-OHD deficiency was considered and confirmed by genetic exploration. A non-sense mutation 6379V of the CYP11 gene was found. The patient was referred to an experienced surgeon for micropenis.
The second case is about a 9 year old girl who was diagnosed at birth with a disorder of sexual differentiation 46 XX, without signs of salt loss. The patient had a feminizing surgery at the age of 6 months and she was treated par hydrocortisone. When she was 6 year old, she presented with hyperandrogenism, male behavior, hypertension and severe hypokalemia. Deoxycorticosterone and 17OH-progesterone were markedly elevated. The hypothesis of 11β-OHD deficiency was considered and confirmed by genetic exploration. A non-sense mutation p.G379V of the CYP11B1 gene was found.
Conclusions: Our cases show the importance of the early etiologic investigation in children with disorder of sexual differentiation. Medical and psychological management are necessary to improve the prognosis of these patients.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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