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

Oleh:

Bastian, Claire ; Muller, Jean-Baptiste ; Lortat-Jacob, Stephen ; Nihoul-Fekete, Claire ; Bignon-Topalovic, Joelle

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 103 no. 05 (May 2015), page 1297–1304.
Topik: 46; XY disorders of sex development; DSD; ectodermal dysplasia; gonadal dysgenesis; gene mutation

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K Non-tandon: tidak ada Tandon: 1

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Isi artikel

Objective To assess genetic mutations and associated somatic anomalies in a series of patients with 46,XY gonadal dysgenesis (GD). Design Single center retrospective study. Setting University pediatric hospital. Patient(s) Fourteen patients with 46,XY GD. Intervention(s) None. Main Outcome Measure(s) Genotype-phenotype relationship. Result(s) 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. Conclusion(s) 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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