Results 21 to 30 of about 169,144,440 (149)

A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

JCRPE, 2019
Aromatase deficiency is a rare, autosomal recessive disorder in which affected patients fail to synthesize normal estrogen. Herein, we report a 46, XX patient born with virilised external genitalia.
Fatma Dursun, Serdar Ceylaner
doaj   +1 more source

The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)

Advances in Laboratory Medicine, 2021
The development of female or male sex characteristics occurs during fetal life, when the genetic, gonadal, and internal and external genital sex is determined (female or male). Any discordance among sex determination and differentiation stages results in
Granada Maria Luisa, Audí Laura
doaj   +1 more source

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development

Biomolecules, 2023
Gonadal development is the first step in human reproduction. Aberrant gonadal development during the fetal period is a major cause of disorders/differences of sex development (DSD).
Atsushi Hattori, Maki Fukami
doaj   +1 more source

46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review

Medicina, 2019
Background and objectives: XX male syndrome is part of the disorders of sex development (DSD). The patients generally have normal external genitalia and discover their pathology in adulthood because of infertility.
Marco Terribile, Marco Stizzo, Celeste Manfredi, Carmelo Quattrone, Francesco Bottone, Dario Ranieri Giordano, Giuseppe Bellastella, Davide Arcaniolo, Marco De Sio   +8 more
doaj   +1 more source

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

International Journal of Endocrinology, 2016
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center.
Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior   +21 more
doaj   +1 more source

Disorders of sex development: mothers’ experiences of support [PDF]

, 2017
Background: An increasing body of research has sought to determine the impact of Disorders of Sex Development (DSD) on the family of the affected child. Little is currently understood about the support needs of the family and how well these needs are met.
Chivers, C., Deiros, M., Burns, J.
core   +1 more source

Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype

Urology Case Reports, 2016
Ovotesticular disorder of sex development is historically thought to confer a relatively low risk of germ cell malignancy relative to other disorders of sex development.
Russell E.N. Becker, Ardavan Akhavan
doaj   +1 more source

A Rare Case of 46, XX (SRY+) With Normal Male Stature and Unilateral Absence of the Vas Deferens

Journal of Family and Reproductive Health, 2021
Objective: This study aimed to investigate the cause of primary infertility in a rare case with unilateral absence of vas deferens. Case report: A 35-year-old man was presented to the Infertility Clinic at the National Center of Maternal and Child ...
Ganbayar Batmunkh, Purevtogtokh Myagmartseren, Tuul Bayarsaikhan, Tserendagva Dalkh, Munkhtuya Tumurkhuu   +4 more
doaj   +1 more source

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

, 2015
International audienceDisorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these
Sandra Chantot‐Bastaraud, Sandra Rojo, Radu Harbuz, Matthieu Peycelon, Nicolas Perrot, Perrot, Nicolas, Piguel, Xavier, Hyon, Capucine, Chantot-Bastaraud, Sandra, Mcelreavey, Ken, Bhouri, Rakia, Peycelon, Matthieu, Bashamboo, Anu, Sibony, Mathilde, Rojo, Sandra, Harbuz, Radu, Capucine Hyon, Xavier Piguel, Gilbert-Dussardier, Brigitte, Frederic Bilan, Brigitte Gilbert‐Dussardier, Bilan, Frederic, Alain Kitzis, Mathilde Sibony, Kitzis, Alain, Rakia Bhouri, Anu Bashamboo, Ken McElreavey, Jean‐Pierre Siffroi, Siffroi, Jean-Pierre   +29 more
core   +1 more source

46,XX Testicular Disorders of Sex Development: Case Report

Педиатрическая фармакология
Background. The article presents a rare case report of sex development disorder (DSDs, 46-XX-male), demonstrating the need for timely diagnosis, conservative and surgical treatment, and emphasizes the importance of a multidisciplinary approach.
Elena V. Sibirskaya, Irina V. Karachentsova, Aina S. Annakulieva, Tamara N. Ivanovskaya, Yuliya A. Kirillova, Irina A. Melenchuk, Alena A. Kovaleva   +6 more
doaj   +1 more source