Results 1 to 10 of about 1,141,370 (302)

Cytogenomic description of a Mexican cohort with differences in sex development [PDF]

Molecular Cytogenetics
Background Differences in Sex Development (DSD) is a heterogeneous group of congenital alterations that affect inner and/or outer primary sex characters. Although these conditions do not represent a mortality risk, they can have a severe psycho-emotional
Grecia C. Olivera-Bernal, Marlon De Ita-Ley, Edgar F. Ricárdez-Marcial, Luz María Garduño-Zarazúa, Ángel Ricardo González-Cuevas, Omar A. Sepúlveda-Robles, Juan Carlos Huicochea-Montiel, Alan Cárdenas-Conejo, Laura Santana-Díaz, Haydeé Rosas-Vargas   +9 more
doaj   +2 more sources

Clinical practice guidelines for the management of differences of sex development in Japan [PDF]

Endocrine Journal
Differences of sex development (DSD) are congenital conditions in which chromosomal, gonadal, and anatomical sex characteristics are discordant with typical male or female development.
Tomohiro Ishii, Kenichi Kashimada, Masanobu Kawai, Tomoyo Itonaga, Takeshi Iwasa, Akari Utsunomiya, Kayo Ozaki, Kazuhiro Kawamura, Junko Kanno, Jun Koh, Yoshiyuki Kojima, Shoko Sasaki, Hiroyuki Sato, Koji Shiraishi, Yasuhiro Naiki, Mitsuru Nishiyama, Takashi Hamajima, Yasuko Fujisawa, Noriko Makita, Katsuyuki Matsui, Toshihiro Yanai, Reiko Horikawa, Tsutomu Ogata   +22 more
doaj   +3 more sources

DHX37 variants in patients with 46,XY disorders or differences of sex development [PDF]

Human Genome Variation
Here, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients.
Yuko Katoh-Fukui, Daisuke Saito, Hiroko Narumi, Atsushi Hattori, Maki Igarashi, Erika Uehara, Hirohito Shima, Junko Kanno, Yukihiro Hasegawa, Reiko Horikawa, Keisuke Nagasaki, Maki Fukami   +11 more
doaj   +2 more sources

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development [PDF]

Frontiers in Endocrinology
Prenatal-onset androgen excess leads to abnormal sexual development in 46,XX individuals. This androgen excess can be caused endogenously by the adrenals or gonads or by exposure to exogenous androgens.
Zehra Yavas Abalı, Tulay Guran
doaj   +2 more sources

Quality of care for people with differences of sex development (DSD) in Germany [PDF]

Orphanet Journal of Rare Diseases
Background People with "Differences of Sex Development" (DSD) require comprehensive, specialised, and individualised medical and psychological care. This is often perceived as inadequate by those affected. Therefore, the German Federal Ministry of Health
Maike Schnoor, Andreas Heidenreich, Martina Jürgensen, Ulla Döhnert, Olaf Hiort, Alexander Katalinic   +5 more
doaj   +2 more sources

Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings [PDF]

Case Reports in Endocrinology
Differences in sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Ovotesticular DSD is the rarest variant of DSD where both ovarian and testicular tissues co-exist in an ...
Serwah Bonsu Asafo-Agyei, Emmanuel Ameyaw, Boateng Nimako, Michael Amoah   +3 more
doaj   +2 more sources

In-depth exploration of differences of sex development: 5-year experience in a tertiary center [PDF]

Endocrine Connections
Background: Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients.
Mohamed Hssaini, Sana Abourazzak, Ihsane El Otmani, Mohamed Ahakoud, Amina Ameli, Laila Bouguenouch, Hicham Bekkari   +6 more
doaj   +2 more sources

Germ cell and other tumors in individuals with differences in sex development [PDF]

Ca-A Cancer Journal for Clinicians
Selma Feldman Witchel, MIGUEL Reyes-Múgica   +1 more
exaly   +2 more sources

46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations

Urology Case Reports, 2022
Leydig cell hypoplasia is a rare autosomal recessive condition caused by mutations in luteinizing hormone/chorionic gonadotropin receptor (LHCGR) genes in which 46, XY patients demonstrate a wide spectrum of disorders/differences of sex development (DSD)
Kiarad Fendereski, John Carey, Kathleen Timme, Katherine Hayes, Jessica Robnett, Anthony Schaeffer   +5 more
doaj   +1 more source

Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia

Frontiers in Pediatrics, 2021
The occurrence of fetuses suspected of having ambiguous genitalia will likely increase in the future. Currently, the impact of prenatal genetic counseling on parents' understanding and psychological preparedness has not been addressed.
Takeshi Sato, Takeshi Sato, Tomohiro Ishii, Tomohiro Ishii, Yu Yamaguchi, Yosuke Ichihashi, Yosuke Ichihashi, Daigo Ochiai, Hiroshi Asanuma, Hiroshi Asanuma, Tatsuo Kuroda, Tatsuo Kuroda, Tomonobu Hasegawa, Tomonobu Hasegawa   +13 more
doaj   +1 more source