The fourth case of an adult man affected by aromatase deficiency resulting from a novel homozygous inactivating mutation of the CYP19 (P450arom) gene.The patient presented a complex dysmetabolic syndrome that improved after estrogen replacement treatment
A novel compound heterozygous mutation of the aromatase gene in an adult man: a reinforced evidence on the relationships among congenital estrogen deficiency, adiposity and the metabolic syndrome / Luberto, Alessandra; Rochira, Vincenzo; Zirilli, Lucia; Pignatti, Elisa; Evan R., Simpson; Laura E., Maffei; Carani, Cesare. - In: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. - ISSN 0391-4097. - STAMPA. - 30:(2007), pp. 50-50. (Intervento presentato al convegno XXXII National Congress of Italian Society of Endocrinology tenutosi a Verona, Italy nel 13-16 June 2007).
A novel compound heterozygous mutation of the aromatase gene in an adult man: a reinforced evidence on the relationships among congenital estrogen deficiency, adiposity and the metabolic syndrome
LUBERTO, Alessandra;ROCHIRA, Vincenzo;ZIRILLI, Lucia;PIGNATTI, Elisa;CARANI, Cesare
2007
Abstract
The fourth case of an adult man affected by aromatase deficiency resulting from a novel homozygous inactivating mutation of the CYP19 (P450arom) gene.The patient presented a complex dysmetabolic syndrome that improved after estrogen replacement treatment
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