Results 31 to 40 of about 50,074,769 (205)

46 XY gonadal dysgenesis in adulthood ‘pitfalls of late diagnosis’ [PDF]

BMJ Case Reports, 2012
Disorders of sex development (DSD) include congenital conditions where developments of chromosomal, gonadal or anatomical sex are atypical. Ostrer in 2000, reported a prevalence of 1:20 000 for 46 XY DSD and complete gonadal dysgenesis. A 21-year-old patient consulted for sexual ambiguity at the out-patient department of the Philippine general hospital.
Jarna Naing, Hamin, Francis Raymond P, Arkoncel, Frances Lina, Lantion-Ang, Mark Anthony S, Sandoval   +3 more
openaire   +2 more sources

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

Swyer Syndrome: A Case Report

Endocrinology Research and Practice, 2014
Swyer syndrome is a pure gonad dysgenesis associating with 46.XY karyotype, primary amenorrhea and presence of female internal genital tract and bilateral streak gonads in a phenotypic female. The diagnosis is usually made at adolescence when the primary
Hakan Korkmaz, Mesut Özkaya, Ersin Akarsu   +2 more
doaj   +1 more source

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. [PDF]

PLoS ONE, 2011
BACKGROUND: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severe forms of hypospadias. METHODOLOGY/PRINCIPAL FINDINGS: We
Slimane Allali, Jean-Baptiste Muller, Raja Brauner, Diana Lourenço, Radia Boudjenah, Vasiliki Karageorgou, Christine Trivin, Henri Lottmann, Stephen Lortat-Jacob, Claire Nihoul-Fékété, Olivier De Dreuzy, Ken McElreavey, Anu Bashamboo   +12 more
doaj   +1 more source

Gonadal tumor and H-Y antigen in 46,XY pure gonadal dysgenesis [PDF]

Cancer, 1986
Six cases of Swyer's syndrome (46,XY pure gonadal dysgenesis) are reported. Three patients, without gonadal tumor, had female H-Y antigen. Three patients, after gonadal tumor ablation, had intermediate H-Y antigen levels. Repeated blood samples were obtained from two siblings.
V, Amice, J, Amice, J P, Bercovici, D, Riviere, M J, Corolleur   +4 more
openaire   +2 more sources

The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center

Journal of the Formosan Medical Association, 2019
Background/Purpose: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children. Patients and Methods: We enrolled 19 patients from January 1981 to September 2016.
Yen-Chun Huang, Cheng-Ting Lee, Mu-Zon Wu, Shih-Yao Liu, Yi-Ching Tung, Hong-Nerng Ho, Wen-Yu Tsai   +6 more
doaj   +1 more source

Clinical, etiological and laboratory profile of children with disorders of sexual development (dsd)-experience from a tertiary pediatric endocrine unit in western India

Indian Journal of Endocrinology and Metabolism, 2021
Objectives: To present the clinical profile, diagnostic work-up, and management of children with Disorders of Sexual Development (DSD).Materials and Methods: A retrospective study from a tertiary pediatric endocrine unit of western India.
Rahul Jahagirdar, Vaman Khadilkar, Ruma Deshpande, Nikhil Lohiya   +3 more
doaj   +1 more source

Sperm Telomere Interactions Are Impaired in Testicular Cancer Before and After Adjuvant Therapy

Andrology, EarlyView.
ABSTRACT Background No study has yet explored telomere length or interaction in sperm nuclei of testicular cancer (TC) patients exposed to chemotherapy or radiotherapy. However, sperm telomere dynamics have emerged as a potential marker in male infertility.
Benoit Berby, Sylvianne Hennebicq, Jacqueline Saias, Florence Brugnon, Isabelle Berthaut, Myriam Daudin, Louis Bujan, Ludovic Dumont, Christine Rondanino, Aurélie Feraille, Nathalie Rives   +10 more
wiley   +1 more source

Swyer syndrome (46, XY complete gonadal dysgenesis)

Philippine Journal of Obstetrics and Gynecology, 2022
Swyer syndrome is a type of gonadal dysgenesis wherein a 46, XY karyotype presents with a female phenotype. It is a rare cause of disorder in sexual development that occurs in 1:100,000 births. Local studies are currently limited to few case reports. Sex-determining region on the Y chromosome gene mutation is the root cause of
Pamela Maria P. Mallari, Sherry L. Carlos-Navarro   +1 more
openaire   +1 more source

A 45,X/46,XY Male with Orchidopexy Diagnosed with Mixed Germ Cell Tumor After 21-year Follow-up

Urology Case Reports, 2017
A case of a 45,X/46,XY boy with gonadal dysgenesis is presented. The patient showed hypospadias and right undescended testis. He underwent underwent repair surgery for hypospadias, right orchidopexy, and bilateral testicular biopsy.
Masashi Kubota, Naoki Terada, Katsuhiro Ito, Hideaki Takada, Toshihiro Magaribuchi, Atsuro Sawada, Shusuke Akamatsu, Hiromitsu Negoro, Ryoichi Saito, Takashi Kobayashi, Toshinari Yamasaki, Takahiro Inoue, Osamu Ogawa   +12 more
doaj   +1 more source