Results 121 to 130 of about 2,838 (167)

Novel NR5A1 variants associated with hypospadias and disorders of sex development: A series case report of 4 patients. [PDF]

Medicine (Baltimore)
Peng X, Zu J, Wang S, Hu Q.
europepmc   +1 more source

A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South China. [PDF]

Biol Sex Differ
Lei X, Zhou X, Cheng Z, Zhao S, Gui C, Ma Y, Shi M, Wei X, Xie B, Fan X, Chen S, Tao Q, Su Y, Yuan D, Gui B.   +14 more
europepmc   +1 more source

Functional Validation of a Novel <italic>PBX1</italic> Missense Variant in a 46,XY Girl.

Sex Dev
Tsai MC, Weng YH, Wang YC, Chou YY, Chang KC, Chen PC.   +5 more
europepmc   +1 more source

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Human sex-determination and disorders of sex-development (DSD)

Seminars in Cell and Developmental Biology, 2015
Several new genes and pathways have been identified in recent years associated with human errors of sex-determination or DSD. SOX family gene mutations, as well as mutations involving GATA4, FOG2 and genes involved in MAP kinase signaling have been associated with virilization in 46,XX individuals or with 46,XY gonadal dysgenesis.
Anu Bashamboo, Ken Mcelreavey
exaly   +3 more sources

Management guidelines for disorders/different sex development (DSD)

Anales De Pediatría (English Edition), 2018
Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred.
Julio Guerrero-Fernandez
exaly   +5 more sources

The anatomical assessment of disorders of sex development (DSD)

Journal of Pediatric Urology, 2012
The assessment of abnormal anatomy in cases of DSD is important to aid diagnosis, understand the aetiology and severity of the condition, guide management and assess the outcomes of treatment. In this paper we present a systematic approach to this assessment which will provide a means by which the multiple disciplines who manage patients with these ...
P D E Mouriquand
exaly   +3 more sources

Delivery of multidisciplinary care in the field of differences and disorders of sex development (DSD) [PDF]

Expert Review of Endocrinology and Metabolism, 2022
Differences and disorders of sex development (DSD) are a diverse group of conditions, which often present in early childhood and may require input from a group of experts in a wide range of clinical fields. Clinical guidance in this field recommends that these experts function as a multidisciplinary team (MDT) within which each expert has a defined ...
Angela K Lucas-Herald, S Faisal Ahmed
exaly   +3 more sources

Disorders of Sex Development (DSD) in the Newborn

2022
Abstract The newborn infant with a suspected disorder of sex development (DSD) presents a challenging scenario. It is paramount that any such chid is assessed by an expert with adequate knowledge about the range of variation in the physical appearance of genitalia, the underlying pathophysiology of disorders of sex development and the ...
S. Faisal Ahmed, Salma R. Ali
openaire   +1 more source