Ann Genet. 1985;28(3):154-60.

Embryonic testicular regression syndrome and severe mental retardation in sibs.

de Grouchy J, Gompel A, Salomon-Bernard Y, Kuttenn F, Yaneva H, Paniel JB, Le Merrer M, Roubin M, Doussau de Bazignan M, Turleau C.

Abstract

The embryonic testicular regression syndrome associated with severe mental retardation is reported in three 46,XY sibs each of whom has a 46,XY chromosome complement. A fourth sib, a sister, also is severely retarded mentally; her chromosome complement is 46,XX. The 46,XY individuals, who were raised as females, presented varying degrees of genital ambiguity, indicating that their gonadal activities had been arrested at different times during embryogenesis. No trace of gonadal tissue could be found in either patient. The coincidence of the embryonic testicular regression syndrome and severe mental retardation in the same sibship is discussed.

PMID:: 3879148; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Case Reports

MeSH Terms

Substances

Androgens

LinkOut - more resources

Medical

Embryonic Testicular Regression Syndrome - Genetic Alliance

Supplemental Content

Save items

Related citations in PubMed

Embryonic testicular regression syndrome: variable phenotypic expression in siblings. [J Pediatr. 1980]
Embryonic testicular regression syndrome: variable phenotypic expression in siblings.
Josso N, Briard ML. J Pediatr. 1980 Aug; 97(2):200-4.
Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene. [Am J Med Genet. 1994]
Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene.
Mendonça BB, Barbosa AS, Arnhold IJ, McElreavey K, Fellous M, Moreira-Filho CA. Am J Med Genet. 1994 Aug 1; 52(1):39-43.
A female with XO/XY mosaicism and partial trisomy 9p. [J Med Genet. 1981]
A female with XO/XY mosaicism and partial trisomy 9p.
Klasen M, Hansmann I, Schmid M, Schmidtke J. J Med Genet. 1981 Dec; 18(6):482.
Review Y chromosome haplogroups: a correlation with testicular dysgenesis syndrome? [APMIS. 2003]
Review Y chromosome haplogroups: a correlation with testicular dysgenesis syndrome?
McElreavey K, Quintana-Murci L. APMIS. 2003 Jan; 111(1):106-13; discussion 114.
Review Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. [J Clin Endocrinol Metab. 1993]
Review Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis.
Fechner PY, Marcantonio SM, Ogata T, Rosales TO, Smith KD, Goodfellow PN, Migeon CJ, Berkovitz GD. J Clin Endocrinol Metab. 1993 May; 76(5):1248-53.

See reviews... See all...

Cited by 3 PubMed Central articles

Clinical, biological and genetic analysis of anorchia in 26 boys. [PLoS One. 2011]
Clinical, biological and genetic analysis of anorchia in 26 boys.
Brauner R, Neve M, Allali S, Trivin C, Lottmann H, Bashamboo A, McElreavey K. PLoS One. 2011; 6(8):e23292. Epub 2011 Aug 10.
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. [Hum Reprod. 2007]
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
Philibert P, Zenaty D, Lin L, Soskin S, Audran F, Léger J, Achermann JC, Sultan C. Hum Reprod. 2007 Dec; 22(12):3255-61. Epub 2007 Oct 16.
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. [Am J Hum Genet. 1990]
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.
Wilkie AO, Zeitlin HC, Lindenbaum RH, Buckle VJ, Fischel-Ghodsian N, Chui DH, Gardner-Medwin D, MacGillivray MH, Weatherall DJ, Higgs DR. Am J Hum Genet. 1990 Jun; 46(6):1127-40.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Embryonic testicular regression syndrome and severe mental retardation in sibs.
Embryonic testicular regression syndrome and severe mental retardation in sibs.
Ann Genet. 1985 ;28(3):154-60.

PubMed
Diastereomers of the nucleoside phosphorothioates as probes of the structure of ...
Diastereomers of the nucleoside phosphorothioates as probes of the structure of the metal nucleotide substrates and of the nucleotide binding site of yeast hexokinase.
J Biol Chem. 1979 Nov 10 ;254(21):10839-45.

PubMed
Importance of T-cells and macrophages in the antitumor activity of carboxyethylg...
Importance of T-cells and macrophages in the antitumor activity of carboxyethylgermanium sesquioxide (Ge-132).
Anticancer Res. 1985 Sep-Oct ;5(5):479-83.

PubMed
The inhibition of staphylococcal beta-lactamase by clavulanic acid.
The inhibition of staphylococcal beta-lactamase by clavulanic acid.
Biochem J. 1979 Apr 1 ;179(1):67-76.

PubMed
Possible involvement of opioid peptides of caudate nucleus in acupuncture analge...
Possible involvement of opioid peptides of caudate nucleus in acupuncture analgesia.
Pain. 1985 Sep ;23(1):83-93.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: