Hormonal and dna studies in xx males

ABSTRACT 8 male patients with 46XX caryotype were studied at age 1 mon. to 15 yrs. 3 had normal genitalia, 5 had hypospadias, 4 with cryptorchism. Biopsy performed in 5 showed normal testis

before age 8 and testicular dysgenesis at age 8-12 yrs, without any ovarian structure. Follow-up for 5-18 yrs was obtained in 6: puberty was normal up to stages 3-5, with small testes in

all, gynecomastia in 4, final height 163 cm, normal mental development in 5 and slight impairment in Hormonal studies: 1) before puberty, (5 patients) plasma FSH and LH (basal and peak after

LH-RH) and testosterone (T) were normal; 2) during puberty (n=5) FSH and LH were increased with normal T; 3) 2 adult patients had very high gonadotropins with decreased T, showing that XX

testes go to pubertal involution. Chromosomal studies of the 8 patients failed to show any Y material. However DNA, studied in 3 patients by means of DNA probe, showed specific sequences of

chromosome Y. One more patient studied by immunological method had HY antigen. These data demonstrate translocation of Y material on another chromosome. ARTICLE PDF AUTHOR INFORMATION

AUTHORS AND AFFILIATIONS * Hop. St. Vincent de Paul and Inst, Pasteur, Paris J E Toublanc, C Naud, M Fellous, C Bishop, M Casanova, J C Job & P Canlorbe Authors * J E Toublanc View

author publications You can also search for this author inPubMed Google Scholar * C Naud View author publications You can also search for this author inPubMed Google Scholar * M Fellous View

author publications You can also search for this author inPubMed Google Scholar * C Bishop View author publications You can also search for this author inPubMed Google Scholar * M Casanova

View author publications You can also search for this author inPubMed Google Scholar * J C Job View author publications You can also search for this author inPubMed Google Scholar * P

Canlorbe View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Toublanc,

J., Naud, C., Fellous, M. _et al._ Hormonal and DNA studies in XX males. _Pediatr Res_ 18, 1224 (1984). https://doi.org/10.1203/00006450-198411000-00142 Download citation * Issue Date:

November 1984 * DOI: https://doi.org/10.1203/00006450-198411000-00142 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry,

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