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.

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.

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

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

AN UNUSUAL CASE OF GONADAL DYSGENESIS

1965 ◽  
Vol 49 (4_Suppl) ◽  
pp. S17
Author(s):  
J. J. van der Werff ten Bosch
Keyword(s):  
Gonadal Dysgenesis ◽  
Unusual Case

MIXED GONADAL DYSGENESIS — MALE HERMAPHRODITISM WITH 46, XY/45, XO/46, X DIC Y MOSAICISM

1974 ◽  
Vol 77 (1_Suppl) ◽  
pp. S47
Author(s):  
H. Cramer ◽  
R. Buchholz ◽  
E. Daume ◽  
H. Kalbfleisch ◽  
G. Sturm
Keyword(s):  
Gonadal Dysgenesis ◽  
Mixed Gonadal Dysgenesis

Clinical and molecular profile of patients with gonadal dysgenesis attending tertiary care hospital.

2014 ◽  
Author(s):  
Vasundhera Chauhan ◽  
Madan Lal Khurana ◽  
Poonam Gupta ◽  
Iram Sabir ◽  
A.C Ammini
Keyword(s):  
Gonadal Dysgenesis ◽  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Molecular Profile ◽  
Care Hospital

scholarly journals Possible Epigenetic Origin of a Recurrent Gynandromorph Pattern in Megachile Wild Bees

Insects ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 437
Author(s):  
Daniele Sommaggio ◽  
Giuseppe Fusco ◽  
Marco Uliana ◽  
Alessandro Minelli
Keyword(s):  
Current Knowledge ◽  
Sex Differentiation ◽  
General Pattern ◽  
Body Parts ◽  
Wild Bees ◽  
Male And Female ◽  
Female Phenotype ◽  
In The Wild ◽  
Gene Transcripts ◽  
Individual Body

Gynandromorphs, i.e., individuals with a mix of male and female traits, are common in the wild bees of the genus Megachile (Hymenoptera, Apoidea). We described new transverse gynandromorphs in Megachile pilidens Alfkeen, 1924 and analyze the spatial distribution of body parts with male vs. female phenotype hitherto recorded in the transverse gynandromorphs of the genus Megachile. We identified 10 different arrangements, nine of which are minor variants of a very general pattern, with a combination of male and female traits largely shared by the gynandromorphs recorded in 20 out of 21 Megachile species in our dataset. Based on the recurrence of the same gynandromorph pattern, the current knowledge on sex determination and sex differentiation in the honey bee, and the results of recent gene-knockdown experiments in these insects, we suggest that these composite phenotypes are possibly epigenetic, rather than genetic, mosaics, with individual body parts of either male or female phenotype according to the locally expressed product of the alternative splicing of sex-determining gene transcripts.

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