Results 21 to 30 of about 21,834 (238)

Study on 46 XY Disorders of Sex Development

Journal of Armed Forces Medical College, Bangladesh, 2020
Introduction: 46 XY disorders of sexual development (DSD) include a wide sphere of phenotypes which can be ambiguous male genitalia with or without hypospadias, unambiguous female genitalia or dysgenetic gonads or any combination of them. Management of these patients depends on the aetiology, age at presentation, gender orientation and advancement in ...
Nurun Nahar Fatema Begum, Fauzia Mohsin, Eva Jesmin   +2 more
openaire   +2 more sources

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2015
Abstract Context: Disorders of sex development (DSD) are clinical conditions where there is a discrepancy between the chromosomal sex and the phenotypic (gonadal or genital) sex of an individual. Such conditions can be stressful for patients and their families and have historically been difficult to ...
Ruth M, Baxter, Valerie A, Arboleda, Hane, Lee, Hayk, Barseghyan, Margaret P, Adam, Patricia Y, Fechner, Renee, Bargman, Catherine, Keegan, Sharon, Travers, Susan, Schelley, Louanne, Hudgins, Revi P, Mathew, Heather J, Stalker, Roberto, Zori, Ora K, Gordon, Leigh, Ramos-Platt, Anna, Pawlikowska-Haddal, Ascia, Eskin, Stanley F, Nelson, Emmanuèle, Délot, Eric, Vilain   +20 more
openaire   +2 more sources

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort [PDF]

, 2016
BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic ...
Bergman, P., Bouty, A., Brown, J., Cameron, F., Eggers, S., et al., Grover, S., Heloury, Y., Hewitt, J., Hutson, J., Kimber, C., Knarston, I., Lambeth, L., O'Connell, M., Ohnesorg, T., Robevska, G., Sadedin, S., Tan, T., van den Bergen, J., Werther, G., Zacharin, M.   +20 more
core   +1 more source

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. [PDF]

PLoS ONE, 2018
BACKGROUND:MIRAGE syndrome, a congenital multisystem disorder due to pathogenic SAMD9 variants, describes a constellation of clinical features including 46,XY disorders of sex development (DSD), small for gestational age (SGA) and adrenal insufficiency ...
Hirohito Shima, Mie Hayashi, Takashi Tachibana, Makoto Oshiro, Naoko Amano, Tomohiro Ishii, Hidenori Haruna, Maki Igarashi, Masafumi Kon, Ryuji Fukuzawa, Yukichi Tanaka, Maki Fukami, Tomonobu Hasegawa, Satoshi Narumi   +13 more
doaj   +1 more source

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant

Frontiers in Genetics, 2022
Mutations in the nuclear receptor subfamily 5 group A member 1 (NR5A1) are the underlying cause of 10–20% of 46,XY disorders of sex development (DSDs). We describe a young girl with 46,XY DSD due to a unique novel mutation of the NR5A1 gene.
Kheloud M. Alhamoudi, Balgees Alghamdi, Abeer Aljomaiah, Meshael Alswailem, Hindi Al-Hindi, Ali S. Alzahrani, Ali S. Alzahrani   +6 more
doaj   +1 more source

Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]

, 2011
Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations
Laura J Chalmers, Paul Doherty, Claude J Migeon, Kenneth C Copeland, Brianna C Bright, Amy B Wisniewski   +5 more
core   +2 more sources

Submicroscopic copy-number variations associated with 46,XY disorders of sex development [PDF]

Molecular and Cellular Pediatrics, 2015
Mutations in known causative genes and cytogenetically detectable chromosomal rearrangements account for a fraction of cases with 46,XY disorders of sex development (DSD). Recent advances in molecular cytogenetic technologies, including array-based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA ...
Kon, Masafumi, Fukami, Maki
openaire   +2 more sources

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development

Endocrine Connections, 2020
Objective: Steroid measurement is a challenge in pediatric endocrinology. Currently, liquid chromatography with tandem mass spectrometry (LC-MS/MS) is considered a gold standard for this purpose. The aim of this study was to co mpare both LC-MS/MS and
Letícia Ribeiro Oliveira, Carlos Alberto Longui, Guilherme Guaragna-Filho, José Luiz Costa, Rafael Lanaro, David Antônio Silva, Maria Izabel Chiamolera, Maricilda Palandi de Mello, André Moreno Morcillo, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior   +10 more
doaj   +1 more source

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development [PDF]

, 2016
Cell lineages of the early human gonad commit to one of the two mutually antagonistic organogenetic fates, the testis or the ovary. Some individuals with a 46,XX karyotype develop testes or ovotestes (testicular or ovotesticular disorder of sex ...
Achermann, JC, Balasubramanyam, A, Barseghyan, H, Bashamboo, A, Bignon-Topalovic, J, Bingham, N, Buonocore, F, Burrage, L, Calvel, P, de Silva, K, Dhar, S, Donohoue, PA, Dumargne, MC, Eozenou, C, Jain, M, Lagos, CF, Lee, B, Lin, L, McElreavey, K, Members of UDN, ., Mulukutla, SN, Poulat, F, Rojo, S, Rosenfeld, JA, Seneviratne, SN, Suntharalingham, JP, Vilain, E   +26 more
core   +2 more sources

2D:4D Suggests a Role of Prenatal Testosterone in Gender Dysphoria [PDF]

, 2020
Gender dysphoria (GD) reflects distress caused by incongruence between one’s experienced gender identity and one’s natal (assigned) gender. Previous studies suggest that high levels of prenatal testosterone (T) in natal females and low levels in natal ...
Fazeli, Nasrin, Honekopp, Johannes, Khorashad, Behzad S., Sadr, Mostafa, Talaei, Ali   +4 more
core   +2 more sources