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Article

NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.

Clinical endocrinology - 1 Apr 2021

Laan Maris, Kasak Laura, Timinskas Kęstutis, Grigorova Marina, Venclovas Česlovas, Renaux Alexandre, Lenaerts Tom, Punab Margus

Abstract excerpt

OBJECTIVE: The study aimed to identify the genetic basis of partial gonadal dysgenesis (PGD) in a non-consanguineous family from Estonia. PATIENTS: Cousins P (proband) 1 (12 years; 46,XY) and P2 (18 years; 46,XY) presented bilateral cryptorchidism, severe penoscrotal hypospadias, low bitesticular volume and azoospermia in P2. Their distant relative, P3 (30 years; 46,XY), presented bilateral cryptorchidism and...

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PMID: 33296094
DOI: 10.1111/cen.14381

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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