Results 91 to 100 of about 1,703 (122)
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46,XX Testicular/Ovotesticular Disorders of Sexual Development: A Single-Center Retrospective Experience

Sexual Development
Background: 46,XX testicular/ovotesticular disorders of sexual development (T/OT DSD) are infrequent congenital conditions characterized by the presence of functional ovarian and testicular or only testicular parenchyma.
M. Costanzo   +17 more
semanticscholar   +1 more source

Precocious Puberty in a 4-year-old Child with 46,XX Disorder of Sexual Development: A Case Report

KESANS International Journal of Health and Science
Introduction: Disorders of sex development (DSD) are congenital conditions in which there is a mismatch between chromosomal, gonadal, and phenotypic sex.
F. N. Aini, C. Sutrisnani
semanticscholar   +1 more source

Testicular differentiation in 46,XX DSD: an overview of genetic causes

Frontiers in Endocrinology
In mammals, the development of male or female gonads from fetal bipotential gonads depends on intricate genetic networks. Changes in dosage or temporal expression of sex-determining genes can lead to differences of gonadal development.
Maria Tereza Martins Ferrari   +5 more
semanticscholar   +1 more source

A case report of a normal fertile woman with 46,XX/46,XY somatic chimerism reveals a critical role for germ cells in sex determination.

Human Reproduction
Individuals with 46,XX/XY chimerism can display a wide range of characteristics, varying from hermaphroditism to complete male or female, and can display sex chromosome chimerism in multiple tissues, including the gonads.
D. Cheng   +8 more
semanticscholar   +1 more source

Gonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature.

Journal of Clinical Research in Pediatric Endocrinology
Gonadoblastoma is a rare ovarian tumor composed of sex cord cells and primitive germ cells. While the majority of gonadoblastomas are found in individuals with 46,XY gonadal dysgenesis, they are also rarely seen in patients with a 46,XX karyotype.
Tuğçe Kandemir   +11 more
semanticscholar   +1 more source

An Iranian Adolescent with Disorders of Sex Development: A Case Report of 46,XX Male Disorder and Literature Review

Alborz University Medical Journal
The 46,XX male disorder of sexual development is a rare condition, occurring in approximately one in 20,000 live male births. Clinical manifestations can include testicular atrophy, azoospermia, gynecomastia, short stature, cryptorchidism, hypospadias ...
S. Noorian, Peyman Saeedi
semanticscholar   +1 more source

46,XX Disorders of Sex Development: A Case with p.Arg92Trp Variant in NR5A1

Journal of Pediatric Genetics
Ovotesticular (OT) disorders of sex development (DSDs) are marked by the simultaneous presence of ovarian and testicular tissues within the gonads. The appearance of external genitalia does not necessarily correlate with gonadal histology.
M. A. Oktay   +6 more
semanticscholar   +1 more source

Síndrome de Turner diagnosticado tardíamente: a propósito de un caso

, 2007
J. O. Roldán   +5 more
semanticscholar   +1 more source

Single-cell roadmap of human gonadal development

Nature, 2022
Luz Garcia-Alonso   +2 more
exaly  

Disgenesia gonadal 46, XX con ausencia de cromatina X en citología gonadal

open access: closed, 1990
Carlos Manuel Morán Bustos   +4 more
openalex  

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