Disorders of Sexual Development




Sex Chromosome DSD.

Freemartinism (XX/XY Mosiac)




XX ovarian DSD



XX SRY- ovotesticular DSD

Goats with polled intersex syndrome can have ovotestes - eee XX testicular DSD below.

XX SRY- testicular DSD

Polled intersex syndrome (PIS)

Polled goats can have a disorder of sexual development. Affected goats have the Polled Intersex Syndrome (PIS). If they have (60) XX sex chromosomes and are homozygous for polledness, they will be variably masculinised. XX polled goats that lack functional FOXL2 on both alleles will be males with testes. FOXL2 is a crucial ovary determining gene in goats (unlike Foxl2 -/- mice which have ovaries but no follicles). FOXL2 also inhibits DMART1, which regulates SOX9, the testis determining gene. These goats have a deletion of an 11.7-kb region, called the PIS region, of chromosome 1. The PIS region is 300kb upstream of FOXL2 and a lack of PIS on both chromosomes results in transcriptional silencing of FOXL2 and 3 other PIS regulated genes. FOXL2 is the only gene to produce a protein, the others probably regulate FOXL2.

Boulanger L, Pannetier M, Gall L, Allais-Bonnet A, Elzaiat M, Le Bourhis D, Daniel N, Richard C, Cotinot C, Ghyselinck NB, Pailhoux E. FOXL2 is a female sex-determining gene in the goat. Curr Biol. 2014; 24: 404-408.

Canisso et al (2014) reports on one case of polled intersex syndrome where the abdominal testes developed both Sertoli and interstitial cell tumours.

Canisso I, Coffee L, Ortved K, Fubini S, Monteagudo L, Schlafer D, Gilbert R. (2014) Bilateral Sertoli and Interstitial Cell Tumours in Abdominal Testes of a Goat with Polled Intersex Syndrome (PIS). Reprod Domest Anim. 2014; 49: e64-e69.

Elzaiat M, Jouneau L, Thépot D, Klopp C, Allais-Bonnet A, Cabau C, André M, Chaffaux S, Cribiu EP, Pailhoux E, Pannetier M. High-throughput sequencing analyses of XX genital ridges lacking FOXL2 reveal DMRT1 up-regulation Before SOX9 expression during the sex-reversal process in goats. Biol Reprod 2014; 91: 153 1-14