Results 31 to 40 of about 110,162 (292)

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review

Molecular Genetics & Genomic Medicine, 2020
Background Disorders of sex development (DSD) can result from congenital defect in sex determining pathway. Mitogen‐activated protein kinase kinase kinase 1 (MAP3K1) is one of the commonest genes that has been identified to cause 46, XY DSD.
Aisha Al Shamsi, Noura Al Hassani, Moustafa Hamchou, Raya Almazrouei, Aziz Mhanni   +4 more
doaj   +1 more source

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

Gonadal Dysgenesis

Definitions, 2020
disorder characterized by the presence of extremely hypoplastic gonads the development ...
Gonadal Dysgenesis
semanticscholar   +1 more source

A rare cause for primary amenorrhoea

Journal of Human Reproductive Sciences, 2012
Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault′s
Kaderthambi Hajamohideen Noorul Ameen, Rakesh Pinninti   +1 more
doaj   +1 more source

How often are clinicians performing genital exams in children with disorders of sex development? [PDF]

, 2017
Background: We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic.
Eugster, Erica A., Tica, Stefani S.
core   +1 more source

A rare cause for primary amenorrhea: Sporadic perrault syndrome

Indian Journal of Endocrinology and Metabolism, 2012
Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault ...
K H Noorul Ameen, Rakesh Pinninti
doaj   +1 more source

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Genetics in Medicine, 2019
XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or testis regression during fetal development.
K. McElreavey, A. Jørgensen, C. Eozenou, Tiphanie Merel, J. Bignon-Topalovic, D. Tan, D. Houzelstein, Federica Buonocore, N. Warr, R. Kay, M. Peycelon, J. Siffroi, I. Mazen, J. Achermann, Y. Shcherbak, J. Léger, A. Sallai, J. Carel, L. Martinerie, Romain Le Ru, G. Conway, B. Mignot, L. Van Maldergem, R. Bertalan, E. Globa, R. Brauner, R. Jauch, S. Nef, A. Greenfield, A. Bashamboo   +29 more
semanticscholar   +1 more source

Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum.

Journal of Clinical Endocrinology and Metabolism, 2019
CONTEXT 46,XY gonadal dysgenesis (GD) is a heterogeneous group of disorders with a wide phenotypic spectrum, including embryonic testicular regression syndrome (ETRS).
T. E. da Silva, N. Gomes, A. Lerário, C. Keegan, M. Nishi, F. Carvalho, E. Vilain, H. Barseghyan, A. Martínez-Aguayo, M. Forclaz, R. Papazian, Leila Cristina Pedroso de Paula, E. Costa, L. Carvalho, A. Jorge, Felipe Martins Elias, R. Mitchell, E. Costa, B. Mendonca, S. Domenice   +19 more
semanticscholar   +1 more source

PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans.

European Journal of Endocrinology, 2019
Context Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development.
T. Guran, G. Yeşil, S. Turan, Z. Atay, E. Bozkurtlar, A. Aghayev, Sinem Gul, I. Tinay, B. Aru, Sema Arslan, M. Koroglu, F. Ercan, G. Y. Demirel, Funda S Eren, B. Karademir, A. Bereket   +15 more
semanticscholar   +1 more source

Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency. [PDF]

, 2018
BackgroundHypergonadotropic hypogonadism (HH) is a genetically heterogeneous disorder that usually presents with amenorrhea, atrophic ovaries, and low estrogen. Most cases of HH are idiopathic and nonsyndromic.
Diao, Feiyang, Jiang, Huaiyang, Katari, Sunita, Rajkovic, Aleksandar, Ren, Yu, Wood-Trageser, Michelle A, Yatsenko, Svetlana   +6 more
core   +2 more sources