Results 31 to 40 of about 167,087,863 (243)

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease. [PDF]

, 2019
Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development in general, as well as gonadal and/
Audí, Laura, Sauter, Kay-Sara, Castaño, Luis, Esteva, Isabel, Camats, Núria, Flück Pandey, Christa Emma, Fernández-Cancio, Mónica, Martinez de LaPiscina, Idoia   +7 more
core   +3 more sources

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

Life, 2023
The group of disorders known as 46,XY gonadal dysgenesis (GD) is characterized by anomalies in testis determination, including complete and partial GD (PGD) and testicular regression syndrome (TRS).
Felipe Rodrigues de Oliveira, Taís Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese-Santos, Sofia Helena V. de Lemos-Marini, Andrea Trevas Maciel-Guerra, Olaf Hiort, Ralf Werner, Gil Guerra-Junior, Helena Fabbri-Scallet   +9 more
doaj   +1 more source

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development. [PDF]

Endocr Connect, 2018
46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype–phenotype correlation, the other types of 46,XY DSD are less well
Kolesinska Z, Acierno J, Ahmed SF, Xu C, Kapczuk K, Skorczyk-Werner A, Mikos H, Rojek A, Massouras A, Krawczynski MR, Pitteloud N, Niedziela M.   +11 more
europepmc   +2 more sources

SPECTRUM OF XY DISORDERS OF SEX DEVELOPMENT IN PAKISTAN

Pakistan Armed Forces Medical Journal, 2018
Objective: To determine the clinico-endocrinal spectrum of XY Disorders of Sex Development (DSD) according to the new classification in our population. Study Design: Cross sectional study.
Dr Zujaja Hina Haroon, Aamir Ijaz, Muhammad Asad Haroon, Naveed Asif, Qudrat Ullah Malik, Muhammad Ayyub   +5 more
doaj   +2 more sources

Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype

Urology Case Reports, 2016
Ovotesticular disorder of sex development is historically thought to confer a relatively low risk of germ cell malignancy relative to other disorders of sex development.
Russell E.N. Becker, Ardavan Akhavan
doaj   +1 more source

One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria

Orphanet Journal of Rare Diseases, 2021
Background 46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and clinicians is the gender assignment.
Liping Hou, Ming Zhao, Lijun Fan, Bingyan Cao, Jiajia Chen, Yonghua Cui, Michel Polak, Chunxiu Gong   +7 more
doaj   +1 more source

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development [PDF]

, 2018
Purpose: Disorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic technologies, the molecular cause remains unknown in 50% of cases.
Elfride De Baere, De Baere, Elfride, Looijenga, Leendert H, Berenice B. Mendonca, De Cauwer, Lode, De Krijger, Ronald R., Verdin, Hannah, Tülay Güran, Verdin, H, Peelman, Frank, Vuylsteke, Marnik, ESR2 Study Group, Nathalia L. Gomes, Katleen de Preter, ESR2 study group, the, Stoop, Hans, Baetens, Dorien, Sorahia Domenice, Atay, Zeynep, Gomes, Nathalia L, Abdullah Bereket, Marnik Vuylsteke, Bereket, Abdullah, Cools, M, Peelman, F, Mendonca, Berenice B., Looijenga, Leendert H., Mendonca, Berenice B, Mendonca, BB, De Preter, Katleen, De Bosscher, Karolien, Frank Peelman, Cools, Martine, Hans Stoop, Martine Cools, Leendert H. Looijenga, De Cauwer, L, Gomes, Nathalia L., Zeynep Atay, Guran, T, Lode De Cauwer, Güran, Tülay, Dorien Baetens, Baetens, D, Linden, M, De Bosscher, K, Van Der Linden, Malaïka, Gomes, NL, Looijenga, LHJ (Leendert), Vuylsteke, M, De Baere, E, Domenice, Sorahia, Malaïka Van der Linden, Hannah Verdin, Ronald R. de Krijger, Serap Turan, Karolien De Bosscher, Turan, Serap   +57 more
core   +5 more sources

46,XY disorders of sex development (DSD)

, 2009
The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical.
MENDONCA, Berenice Bilharinho, ARNHOLD, Ivo J. P., COSTA, Elaine M. F., DOMENICE, Sorahia   +3 more
core   +1 more source

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

Molecular Cytogenetics, 2018
Background A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual.
Bagas A. Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R. L. Batubara, Alida R. Harahap, Nanis S. Marzuki   +5 more
doaj   +1 more source

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Mazen, I., Achermann, J.C., Rossi, R., Akkurt, I., Köhler, B., Cetindag, C., Biebermann, H., Grüters, A., Lin, L., Hiort, O.   +9 more
core