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Title

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome

Authors
Ilaslan, Erkut
Nowak, Dominika
Szarras-Czapnik, Maria
Slowikowska-Hilczer, Jolanta
Spik, Anna
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Published in Sexual Development. 2018, vol. 12, no. 4, p. 191-195
Abstract Identification of novel genes involved in sexual development is crucial for understanding disorders of sex development (DSD). Here, we propose a member of the START domain family, the X chromosome STARD8, as a DSD candidate gene. We have identified a missense mutation of this gene in 2 sisters with 46,XY gonadal dysgenesis, inherited from their heterozygous mother. Gonadal tissue of one of the sisters contained Leydig cells overloaded with cholesterol droplets, i.e., structures previously identified in 46,XY DSD patients carrying mutations in the STAR gene encoding another START domain family member, which is crucial for steroidogenesis. Based on the phenotypes of our patients, we propose a dual role of STARD8 in sexual development, namely in testes determination and testosterone synthesis. However, further studies are needed to confirm the involvement of STARD8 in sexual development.
Identifiers
PMID: 29886504
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Article (Published version) (420 Kb) - public document Free access
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Research group Mécanismes moléculaires et génétiques du développement sexuel (778)
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ILASLAN, Erkut et al. A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome. In: Sexual Development, 2018, vol. 12, n° 4, p. 191-195. https://archive-ouverte.unige.ch/unige:109600

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Deposited on : 2018-10-23

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