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Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty.
- Source :
-
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2017; Vol. 11 (5-6), pp. 225-237. Date of Electronic Publication: 2018 Jan 24. - Publication Year :
- 2017
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Abstract
- Androgen insensitivity syndrome (AIS) is a hereditary condition in patients with a 46,XY karyotype in which loss-of-function mutations of the androgen receptor (AR) gene are responsible for defects in virilization. The aim of this study was to investigate the consequences of the lack of AR activity on germ cell survival and the degree of testicular development reached by these patients by analyzing gonadal tissue from patients with AIS prior to Sertoli cell maturation at puberty. Twenty-three gonads from 13 patients with AIS were assessed and compared to 18 testes from 17 subjects without endocrine disorders. The study of the gonadal structure using conventional microscopy and the ultrastructural characteristics of remnant germ cells using electron microscopy, combined with the immunohistochemical analysis of specific germ cell markers (MAGE-A4 for premeiotic germ cells and of OCT3/4 for gonocytes), enabled us to carry out a thorough investigation of germ cell life in an androgen-insensitive microenvironment throughout prepuberty until young adulthood. Here, we show that germ cell degeneration starts very early, with a marked decrease in number after only 2 years of life, and we demonstrate the permanence of gonocytes in AIS testis samples until puberty, describing 2 different populations. Additionally, our results provide further evidence for the importance of AR signaling in peritubular myoid cells during prepuberty to maintain Sertoli and spermatogonial cell health and survival.<br /> (© 2018 S. Karger AG, Basel.)
- Subjects :
- Androgen-Insensitivity Syndrome metabolism
Antigens, Neoplasm genetics
Antigens, Neoplasm metabolism
Child
Child, Preschool
Germ Cells metabolism
Humans
Immunohistochemistry
Infant
Male
Neoplasm Proteins genetics
Neoplasm Proteins metabolism
Octamer Transcription Factor-3 genetics
Octamer Transcription Factor-3 metabolism
Organic Cation Transport Proteins genetics
Organic Cation Transport Proteins metabolism
Receptors, Androgen genetics
Receptors, Androgen metabolism
Spermatogonia metabolism
Spermatogonia pathology
Testis metabolism
Testis pathology
Androgen-Insensitivity Syndrome pathology
Puberty metabolism
Puberty physiology
Subjects
Details
- Language :
- English
- ISSN :
- 1661-5433
- Volume :
- 11
- Issue :
- 5-6
- Database :
- MEDLINE
- Journal :
- Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
- Publication Type :
- Academic Journal
- Accession number :
- 29393262
- Full Text :
- https://doi.org/10.1159/000486089