Zobrazeno 1 - 10
of 84
pro vyhledávání: '"disorder of sexual differentiation"'
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 18, Iss 08, Pp 01-04 (2024)
Androgen Insensitivity Syndrome (AIS) is a rare X-linked Disorder of Sexual Differentiation (DSD) caused by a mutation in the Androgen Receptor (AR) gene, which is located on the X chromosome (Xq11-q12). It can present with a wide spectrum of phenoty
Externí odkaz:
https://doaj.org/article/f17a00498ad14217bdf62d4d20f5083a
Autor:
Haytham Araibi
Publikováno v:
Urology Case Reports, Vol 56, Iss , Pp 102803- (2024)
A 20-year-old with normal male body features and secondary sexual characteristics presented with a right testicular swelling. Imaging revealed a right testicular mass, leading to a diagnosis of classical seminoma. During inguinal orchiectomy, a solid
Externí odkaz:
https://doaj.org/article/c3373e497d644eca9c59e5d669ac212f
Publikováno v:
Journal of the Pakistan Medical Association, Vol 73, Iss 8 (2023)
The main factor determining differentiation of bipotential gonads into testes or ovaries is the presence or absence of SRY (sex-determining region on Y chromosome) gene. De la Chapelle syndrome is a chromosomal anomaly with chromosomal makeup of a fe
Externí odkaz:
https://doaj.org/article/75e6001aa8e443cd822a7db72ceef56f
Autor:
Samaneh Sharif, Saba Vakili, Moein Mobini, Malihe Lotfi, Fatemeh Zarei, Mohammad Reza Abbaszadegan, Rahim Vakili
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-7 (2022)
Abstract Background Leydig cell hypoplasia (LCH) is a rare autosomal recessive endocrine syndrome that affects the normal development of male external genitalia in 46, XY individuals and is one of the causes of disorder of sexual differentiation (DSD
Externí odkaz:
https://doaj.org/article/e42df8a5523b4c0eb7e8202a61d0a88a
Autor:
Rahul K Gupta, Pooja Tiwari, Sandesh V Parelkar, Beejal V Sanghvi, Kedar P Mudkhedkar, Satej S Mhaskar, Rujuta S Shah
Publikováno v:
Journal of Indian Association of Pediatric Surgeons, Vol 27, Iss 2, Pp 251-254 (2022)
We report an infant reared as a girl who presented with ambiguous genitalia and urine coming per rectum. On examination, she had minimal clitoromegaly with labial fusion and Y urethral duplication. On investigations, genetic, metabolic, and endocrine
Externí odkaz:
https://doaj.org/article/2c0b62430475456faadaf11a7b5e4d45
Akademický článek
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Akademický článek
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Publikováno v:
Indian Journal of Pathology and Microbiology, Vol 64, Iss 2, Pp 390-393 (2021)
Gonadal dysgenesis is a distinct variety of Disorders of Sexual Differentiation (DSD) characterised by incomplete or defective formation of the gonads due to either structural or numerical anomalies of the sex chromosomes or mutations in the genes in
Externí odkaz:
https://doaj.org/article/e56138596ceb4145bc5b84d8f551aefd
Autor:
Odette Berline Sigha, Ritha Mbono Betoko, Grace Anita Nkoro, Mireille Fossi Happi, Charlotte Eposse Ekoube, Benjamin Bertrand Kelbaba, Edgar Mandeng Ma Linwa, Emmanuel Armand Kouotou
Publikováno v:
Clinical Case Reports, Vol 10, Iss 1, Pp n/a-n/a (2022)
Abstract Bart's syndrome consists of congenital aplasia of the skin affecting only the lower limbs, associated with bullae over the skin and/or mucous membranes, as well as a nail anomaly. It is an extremely rare genetic disorder, which can be associ
Externí odkaz:
https://doaj.org/article/a3b08206108942f0b33ae444d90fc5db
Publikováno v:
Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 69-76 (2019)
Steroid 5-α-reductase-2 (5-ARD) deficiency is a result of mutations of the SRD5A2 gene. It causes the disorder of sexual differentiation (DSD) in 46,XY individuals with a variable genital phenotype. We present two siblings with female external genit
Externí odkaz:
https://doaj.org/article/fcb73ea3025b415780ed35574c63f7ae