A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children

Roberta Minari, Alessandra Vottero, Francesco Tassi, Isabella Viani, Tauro Maria Neri, Maria Elisabeth Street, Lucia Ghizzoni, Sergio Bernasconi, Davide Martorana

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OBJECTIVE:  Congenital adrenal hypoplasia (CAH) is a rare disorder that can be inherited in an X-linked or autosomal recessive pattern. CAH is frequently associated with hypogonadotropic hypogonadism (HHG) with absent or arrested puberty and impaired fertility caused by abnormalities in spermatogenesis …