Results 1 to 10 of about 1,703 (122)

Disgenesia gonadal parcial (XY) [PDF]

Revista Colombiana de Endocrinología, Diabetes y Metabolismo, 2022
Introducción: los trastornos del desarrollo sexual se definen como afecciones congénitas en las que el desarrollo del sexo cromosómico gonadal o anatómico es atípico. Son anormalidades raras, ocurren en 1 de cada 1000 a 4500 nacidos vivos. Dentro de las
Hernando Vargas-Uricoechea, Hernando David Vargas-Sierra   +1 more
doaj   +4 more sources

Enfoque del adulto con Disgenesia gonadal mixta [PDF]

Revista Colombiana de Endocrinología, Diabetes & Metabolismo, 2022
Este artículo presenta el caso de un paciente de 32 años con ambigüedad sexual desde el nacimiento. Durante la infancia no fue intervenido quirúrgicamente y no tuvo ningún tipo de seguimiento en el tiempo.
Yessica Agudelo Zapata
core   +3 more sources

Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report

Frontiers in Cardiovascular Medicine, 2022
Background Acute Stanford type A aortic dissection (ATAAD) is a life-threatening disease. Elderly patients are the high-risk population for aortic dissection (AD).
Yifan Zeng, Yerong Hu, B. Jiang, Ling Tan, Hao Tang   +4 more
semanticscholar   +1 more source

A rare case of 46,XX gonadal dysgenesis, Mayer–Rokitansky–Kuster–Hauser syndrome, pituitary and thyroid hypoplasia

Endocrinology, Diabetes & Metabolism Case Reports, 2022
Summary Mayer–Rokitansky–Kuster–Hauser syndrome is characterized by congenital absence or hypoplasia of the uterus and upper two-thirds of the vagina in both phenotypically and karyotypically normal females with functional ovaries, whereas gonadal ...
Rediet Ambachew, Amare Gulilat, Tewodros Aberra, Z. Terefework, Wubalem Bedilu, Getahun Tarekegn, A. Reja   +6 more
semanticscholar   +1 more source

Chromosomal aberrations in patients with suspected Prader Willi syndrome [PDF]

, 2023
Introduction: Prader-Willi syndrome, caused by the absence of expression of the paternal 15q11-13 region, is the first imprinting defect disorder described in humans.
Barrios Martínez, Anduriña, Castelví López, Arlay, Collazo Mesa, Teresa, García García, Alina, García Gómez, Damarys, Lantigua Cruz, Araceli, Molina Gamboa, Odalis, Morales Peralta, Estela, Morales Rodríguez, Enny, Méndez Rosado, Luis Alberto, Santos Merencio, Lainet, Soriano Torres, Michel   +11 more
core   +2 more sources

AS PECULIARIDADES DA DISGENESIA GONADAL MISTA (46, XY/45,X): UMA REVISÃO DA LITERATURA

RECIMA21 - Revista Científica Multidisciplinar - ISSN 2675-6218, 2021
Disgenesia Gonadal Mista é um distúrbio do desenvolvimento sexual do cromossomo sexual, comumente está relacionada ao mosaicismo cromossômico dos cariótipos 45,X/46,XY, além de apresentar gônadas digenéticas e uma anatomia reprodutiva tanto interna ...
Giulia Pietro Biasi, Jonas Hantt Corrêa Lima, Thaís Malickovski Rodrigues, Maria Eduarda Conte Gripa, Gabriele Arbugeri Menegotto, Tuane da Silva Sergio, Mônica Fabian Dors   +6 more
semanticscholar   +1 more source

Gonadal dysgenesis and tumors: genetic and clinical features [PDF]

, 2005
Gonadal dysgenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome and/or chromosome markers.
Bianco, Bianca Alves Vieira, Lipay, Mônica V. Nunes, Verreschi, Ieda Therezinha do Nascimento   +2 more
core   +3 more sources

O espectro das falências ovarianas ligadas ao cromossomo X [PDF]

, 2001
Clinically ovarian failure is presented by primary or secondary amenorrhea and high levels of pituitary gonadotropins mainly FSH. Monossomy or X-chromosome rearrangements are among a variable number of suggested etiopathogenic factors of ovarian failure ...
Hassum Filho, Péricles A., Silva, Ismael Dale Cotrim Guerreiro da, Verreschi, Ieda Therezinha do Nascimento   +2 more
core   +3 more sources

O pediatra frente a uma criança com ambigüidade genital The role of the pediatrician in the management of children with genital ambiguities

Jornal de Pediatria, 2007
OBJETIVO: Apresentar os critérios diagnósticos de ambigüidade genital, a conduta médica inicial e a postura esperada do pediatra. FONTES DOS DADOS: Revisão de literatura científica por meio de artigos publicados no MEDLINE nos idiomas inglês e português,
Gil Guerra-Júnior, Andréa T. Maciel-Guerra   +1 more
doaj   +1 more source

Trastorno del desarrollo sexual testicular 46,XX en evaluación de la fertilidad masculina. Presentación de caso

Medimay, 2018
El trastorno del desarrollo sexual testicular 46,XX es una causa infrecuente de infertilidad masculina. Con el objetivo de reportar un caso diagnosticado en la consulta de genética clínica del Centro Provincial de Genética Médica de Mayabeque, se ...
Daniel Quintana Hernández, Ainadys Herrera Luis, Ernesto R. Noa Domínguez, Danisbel Quintana Mora   +3 more
doaj   +4 more sources