Agénésie Sacrococcygienne et Syndrome de Bonnevie-Ullrich Étude Génétique et Chromosomique

1964 ◽  
Vol 13 (1) ◽  
pp. 69-89
Author(s):  
I. Emerit ◽  
J. de Grouchy ◽  
P. Corone ◽  
P. Vernant ◽  
M. Laval-Jeantet
Keyword(s):  
Genetic Study ◽  
Gonadal Dysgenesis ◽  
External Factors ◽  
Normal Female ◽  
Female Phenotype ◽  
Embryonic Life

SUMMARYA child, aged 11, with female phenotype, associating a sacrococcygeal agenesis to Bonnevie-Ullrich's syndrome, without gonadal dysgenesis, is described. The patient's caryotype is a normal female one (44 A, XX). No similar cases could be found in the literature.This association of two syndromes of undetermined origin is probably fortuitous. A genetic study of 65 pedigrees from the literature did not reveal a mendelian type of inheritance. The possibility of external factors having occurred during embryonic life is discussed.

46,XX gonadal absence: a variant of the XX pure gonadal dysgenesis?

1982 ◽  
Vol 99 (4) ◽  
pp. 585-587 ◽  
Author(s):  
Martha Medina ◽  
Susana Kofman-Alfaro ◽  
Gregorio Pérez-Palacios
Keyword(s):  
Gonadal Dysgenesis ◽  
Female Phenotype

Abstract. Two unrelated 46,XX individuals with female phenotype and sexual infantilism were studied. Endocrine findings showed anoestrogenism and hypergonadotrophism with a normal pituitary response to LRH. Laparotomy disclosed ovarian absence with normal Mullerian derivatives and no gonadal streaks were found within the true pelvis or inguinal canals. This condition represents the 46,XX counterpart of the 46,XY gonadal absence syndrome. Whether the XX agonadism reported here is a different and distinctive entity or is a variant of the XX pure gonadal dysgenesis syndrome can not be ascertained at present.

Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes

2004 ◽  
Vol 190 (4) ◽  
pp. 1059-1062 ◽  
Author(s):  
Albrecht Röpke ◽  
Antje-Friederike Pelz ◽  
Marianne Volleth ◽  
Hans-Walter Schlößer ◽  
Susanne Morlot ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Chromosomal Mosaicism ◽  
Normal Female

Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype

2011 ◽  
Vol 95 (5) ◽  
pp. 1786.e1-1786.e3 ◽  
Author(s):  
Gulseren Bagci ◽  
Atil Bisgin ◽  
Sibel Berker Karauzum ◽  
Bilal Trak ◽  
Guven Luleci
Keyword(s):  
Gonadal Dysgenesis ◽  
Female Phenotype ◽  
Swyer Syndrome ◽  
Complete Gonadal Dysgenesis

scholarly journals Y Chromosome CNV Attribute to the Normal Female Phenotype of a 46XX/46XY Chimerism: A Case Report

2018 ◽  
Vol 08 (06) ◽  
Author(s):  
Zhang H ◽  
Gao L ◽  
Zhao P ◽  
Liu C ◽  
Li W ◽  
...  
Keyword(s):  
Case Report ◽  
Y Chromosome ◽  
Normal Female ◽  
Female Phenotype

Two XY Siblings with Gonadal Dysgenesis and a Female Phenotype

1965 ◽  
Vol 272 (21) ◽  
pp. 1083-1088 ◽  
Author(s):  
Maimon M. Cohen ◽  
Margery W. Shaw
Keyword(s):  
Gonadal Dysgenesis ◽  
Female Phenotype

258 EXPRESSION PATTERN OF THE MATERNAL FACTOR ZYGOTE ARREST 1 (ZAR1) GENE IN OVINE OOCYTES AND PRE-IMPLANTATION EMBRYOS

2007 ◽  
Vol 19 (1) ◽  
pp. 245
Author(s):  
F. Ariu ◽  
D. Bebbere ◽  
S. Succu ◽  
S. Tore ◽  
L. Bogliolo ◽  
...  
Keyword(s):  
Expression Pattern ◽  
Mammalian Species ◽  
Expression Patterns ◽  
Germinal Vesicle ◽  
Normal Female ◽  
Female Reproduction ◽  
Maternal Factor ◽  
Pcr Product ◽  
Embryonic Life ◽  
Polymerase Chain

Zygote arrest 1 (ZAR1) is an ovary-specific maternal factor that plays essential roles during the oocyte-to-embryo transition. It is evolutionary conserved in vertebrates, and the protein is characterized by the presence of a homeobox zing finger domain, suggesting its role in transcription regulation. Discovered in mice (Wu et al. 2003 Nat. Genet. 33, 187-191), its expression pattern has been analyzed in oocytes and pre-implantation embryos in mice, cattle, and pig (Pennetier et al. 2004 Biol. Reprod. 71, 1359-1366; Brevini et al. 2004 Mol. Reprod. Dev. 69, 375-380; Reprod. Biol. Endocrinol. 21, 4-12). Because no information on Zar1 ortholog in the ovine species is available, the aim of this study was to assess its presence and to analyze its expression pattern in oocytes and pre-implantation embryos. Reverse transcription-polymerase chain reaction (RT-PCR) was performed in germinal vesicle (GV) and IVM metaphase II (MII) oocytes, and, following IVFC, in 2- (2C), 4- (4C), 8- (8C), and 12-16- (12C-16C) cell embryos, morulae, and blastocysts. Primers were designed on the basis of bovine and swine conserved sequences and contained an intron-spanning region. The PCR product was sequenced and the alignment, performed with BLAST (www.ncbi.nlm.nih.gov/BLAST/), confirmed its homology with the Zar1 orthologous genes present in public databases, sharing 98%, 92%, and 89% nucleotide identity with the bovine, porcine, and human sequences, respectively. Real-time PCR revealed that Zar1 is present at its highest level in the GV oocyte, has a major decrease at the MII stage (around 10-fold), remains constant in the embryo first cleavage steps (2C-4C), drops again at the 8C stage (around 30-fold), and disappears in morulae and blastocysts. Our data demonstrate that a Zar1 ortholog is present in the ovine species. Results are also in accordance with the expression patterns characterized in other mammalian species and suggest that Zar1 transcript in the ovine oocyte may be necessary for normal female reproduction in the transition from oocyte to embryonic life.

CLINICAL, HISTOLOGICAL AND CYTOGENIC OBSERVATIONS IN PURE GONADAL DYSGENESIS

1966 ◽  
Vol 51 (4) ◽  
pp. 497-510 ◽  
Author(s):  
Krzysztof Boczkowski ◽  
Jerzy Teter
Keyword(s):  
Gonadal Dysgenesis ◽  
Chromosome Complement ◽  
External Genitalia ◽  
Breast Development ◽  
Normal Male ◽  
Normal Female ◽  
Clinical Observations ◽  
Gonadal Histology ◽  
Male Karyotype ◽  
General Appearance

ABSTRACT Clinical observations, gonadal histology and cytogenic studies are described in eight cases of pure gonadal dysgenesis. The general appearance of the patients was feminine. They had never menstruated spontaneously. Most cases showed eunuchoidal body proportions and absence of breast development. The external genitalia were infantile. All patients had the streak gonads which consisted of undifferentiated embryonic stroma without any germinal elements. The gonadotrophin level was normal or high. In four cases, apparently normal male karyotype and in three cases apparently normal female karyotype was found. In one case chromosomal mosaic XO/XX was encountered. No clinical or histological differences between patients with male and female karyotype were found, except for phallic enlargement which was present in three out of four cases with male chromosome complement.

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