Abstract Search

ea0063p39 | Adrenal and Neuroendocrine Tumours 1 | ECE2019

A novel CYP11B1 mutation presenting as a classical congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency

Mazarico Isabel , Gimenez-Palop Olga , Albert Lara , Florencia Luchtenberg , Casamitjana Laia , Capel Ismael , Subias David , Cano Albert , Guitart Miriam , Caixas Assumpta , Rigla Mercedes

Background: Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder, of which 21-hydroxylase deficiency (21OHD) is the most frequent form. 11 beta-hydroxylase deficiency (11bOHD) is the second most common type of CAH. This pathology results from inactivating mutations in CYP11B1 gene.Case presentation: We describe a case of a 48-year-old woman with 11bOHD, presented with hypokalemia hypertension, early adrenarche and mild vir...

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ea0056p27 | Adrenal cortex (to include Cushing's) | ECE2018

A new ARMC5 mutation responsible for primary bilateral macronodular adrenal hyperplasia

Mazarico Isabel , Subias David , Guitart Miriam , Bella Rosa Maria , Albert Lara , Luchtenberg Florencia , Berges Irene , Capel Ismael , Cano Albert , Casamitjana Laia , Gimenez-Palop Olga , Caixas Assumpta , Rigla Mercedes

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause (<2 percent) of endogenous Cushings syndrome, usually characterized by enlarged adrenal glands containing multiple functioning nonpigmented macronodules. PBMAH was thought to be sporadic, but recently a genetic component has been described. Specifically, inactivating mutations in ARMC5 (Armadillo-repeat containing 5), a suppressor gene, have been found in many familial c...

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Endocrine Abstracts

A novel CYP11B1 mutation presenting as a classical congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency

A new ARMC5 mutation responsible for primary bilateral macronodular adrenal hyperplasia

BiosciAbstracts