Genetic mutations and somatic anomalies in association with 46 XY gonadal dysgenesis

Gene mutations were identified in 50% of patients with 46,XY GD. For the first time an association between GD and ectodermal dysplasia was observed.

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Claire Bastian, M.D., Jean-Baptiste Muller, M.D., Stephen Lortat-Jacob, M.D., Claire Nihoul-Fékété, M.D., Joelle Bignon-Topalovic, B.Sc., Ken McElreavey, Ph.D., Anu Bashamboo, Ph.D., Raja Brauner, M.D., Ph.D.

Volume 103, Issue 5, Pages 1297-1304



To assess genetic mutations and associated somatic anomalies in a series of patients with 46,XY gonadal dysgenesis (GD).


Single center retrospective study.


University pediatric hospital.


Fourteen patients with 46,XY GD.



Main Outcome Measure(s):

Genotype-phenotype relationship.


The presenting symptom was disorders of sex development (6 patients), primary amenorrhea (2 patients), discordance between 46,XY karyotype and female external genitalia (3 patients), discovery of Müllerian structures at surgery (2 patients), or diagnosed in the evaluation of a gonadal tumor (1 patient). Müllerian structures were shown by ultrasound evaluation in 7 of 13 patients, genitography in 3 of 6 patients and/or surgery in 8 of 10 patients (3 not seen at imaging), or only by histologic examination (1 patient). Three patients had gonadoblastoma and/or seminoma. A mutation was found in 7 patients of whom 2 had family history of reproductive problems and 5 had associated somatic anomalies. The mutations were FOG2/ZFPM2 (1 patient), SRY (2 patients), WT1 (1 patient), or deletions of distal chromosome 9p (3 patients). Among the three other patients with associated anomalies and no mutation, two had ectodermal dysplasia and one had leukemia.


Mutations were observed in half of the patients with 46,XY GD with Müllerian structures. We also describe for the first time the association between GD and ectodermal dysplasia. Müllerian structures can be found in some cases only by histologic examination, which should be coupled to preventive gonadectomy because of the risk of tumor formation.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.