Article
Estrogen Receptor α Inactivation in 2 Sisters: Different Phenotypic Severities for the Same Pathogenic Variant.
The Journal of clinical endocrinology and metabolism - 17 May 2022
Delcour Clémence, Khawaja Nahla, Gonzalez-Duque Sergio, Lebon Sophie, Talbi Abir, Drira Leila, Chevenne Didier, Ajlouni Kamel, de Roux Nicolas
Abstract excerpt
CONTEXT: Estrogens play an essential role in reproduction. Their action is mediated by nuclear α and β receptors (ER) and by membrane receptors. Only 3 females and 2 males, from 3 families, with a loss of ERα function have been reported to date. OBJECTIVE: We describe here a new family, in which 2 sisters display endocrine and ovarian defects of different severities despite carrying the same homozygous rare...
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