SCIENTIFIC BACKGROUND

ARDHHDMRT1HSD17B3HSD3B2MAMLD1MAP3K1NR0B1NR5A1SOX9SRD5A2SRYTSPYL1WNT4WT1WWOX

SCIENTIFIC BACKGROUND

Disorders of sex development (DSD) comprise a group of congenital disorders characterized by atypical development of internal and external genital structures. Affected individuals may be noticeable at birth due to "ambiguous" genitalia, or they may show symptoms such as postnatal virilization, delayed or absent puberty, or infertility later in life.

 

Sex differentiation disorders can be classified into several categories, 46,XY-DSD, 46,XX-DSD, and gonosomal DSD. 46,XY-DSD includes patients with abnormal testicular differentiation, defects in testosterone biosynthesis, and impaired testosterone action. In 46,XY-DSD, in addition to causative variants in the AR gene, variants in a number of other genes have been described, including DHH, DMRT1, HSD17B3, HSD3B2, MAMLD1, MAP3K1, NR0B1, NR5A1, SOX9, SRD5A2, SRY, TSPYL1, WNT4, WT1, and WWOX. If the male karyotype is unremarkable, these genes can be investigated using multi-gene panel sequencing (NGS).

 

References

Ahamadifard et al. 2019, Andrologia, e13250 / Mognan et al. 2015, Best Pract Res Clin Endocrinol & Metab 29:569 / Gottlieb et al. 2012, Update Hum Mutat 33: 887 / Deeb et al. 2008, J Clin Endocrinol Metab 93:3691 / Galani et al. 2008, Hormones 7:217 / Gottlieb 2004, Reprod Biomed Online 10:42 / Wieacker et al. 1998, Reproduktionsmedizin 14:215

GENES

ARDHHDMRT1HSD17B3HSD3B2MAMLD1MAP3K1NR0B1NR5A1SOX9SRD5A2SRYTSPYL1WNT4WT1WWOX

ASSOCIATED TESTS

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