Results 11 to 20 of about 21,834 (238)

46 xy ovotesticular disorder: A rare case report with review of literature

Gynecology and Minimally Invasive Therapy, 2021
Ovotesticular disorder represents 10% of cases of disorder of sex development characterized by the presence of both ovarian and testicular tissue in the same individual, with karyotype 46 XY being a rare sex chromosomal abnormality. We report the case of
Bhati Meenal, Gothwal Meenakshi, Singh Pratibha, Yadav Garima, Kathuria Priyanka, Elhence Poonam   +5 more
doaj   +1 more source

5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family

Clinical Case Reports, 2023
Key clinical message 5‐Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome.
Samaneh Noroozi Asl, Reza Ibrahimi, Sepideh Bagheri, Mojtaba Lotfi   +3 more
doaj   +1 more source

Disorders of Sex Development of Adrenal Origin

Frontiers in Endocrinology, 2021
Disorders of Sex Development (DSD) are anomalies occurring in the process of fetal sexual differentiation that result in a discordance between the chromosomal sex and the sex of the gonads and/or the internal and/or external genitalia.
Gabriela P. Finkielstain, Ana Vieites, Ignacio Bergadá, Rodolfo A. Rey, Rodolfo A. Rey   +4 more
doaj   +1 more source

46 XY disorder of sex development: Case report

World Journal of Advanced Research and Reviews, 2023
Disorders of sexual differentiation in 46, XY patients cover a wide spectrum of clinical pictures (female phenotype, posterior hypospadias, cryptorchidism). Their causes are varied and affect the stages of testicular determination (gonadal dysgenesis) or defects in testosterone production or action (testosterone secretion abnormalities, androgen ...
F. El Gharroudi, S. Bammou, S. Rafi, G. El Mghari, N. El Ansari   +4 more
openaire   +1 more source

GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature

JCRPE, 2022
The genetic cause of 46, XY disorder of sex development (DSD) still cannot be determined in about half of the cases. GATA-4 haploinsufficiency is one of the rare causes of DSD in genetic males (46, XY).
Nurullah Çelik, Hande Küçük Kurtulgan, Fatih Kılıçbay, Gaffari Tunç, Ayça Kömürlüoğlu, Onur Taşçı, Cemile Ece Çağlar Şimşek, Taha Çınar4, Yeşim Sıdar Duman   +8 more
doaj   +1 more source

Non-Syndromic 46,XY Disorders of Sex Development [PDF]

Acta Medica Martiniana, 2018
Abstract Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic testing which has surely taken its place in diagnostics of DSD in the past couple
Gecz J, Breza J, Banovcin P
openaire   +2 more sources

A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene

JCRPE, 2020
Adrenal hypoplasia is a rare congenital disorder. In spite of biochemical and molecular genetic evaluation, etiology in many patients with adrenal hypoplasia is not clear.
Eda Mengen, Aynur Küçükçongar Yavaş, S. Ahmet Uçaktürk   +2 more
doaj   +1 more source

46, XY DSD (Disorder of Sex Development) : Diagnosis dan Tatalaksananya.

Majalah Kedokteran UKI, 2021
Disorder of Sex Development (DSD) is a congenital disorder that occurs in the development of chromosomes, gonads, and internal or external genital organ. DSD of 46 XY is a condition where the children with XY genotype is not able to have complete virilization of external genital.
Mildi Felicia, Beto Suhartono
openaire   +2 more sources

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study

Endocrine Connections, 2023
Diagnosis and management strategy of disorders of sex developme nt (DSD) are difficult and various due to heterogeneous phenotype and genotype. Under widespread use of genomic sequencing technologies, multiple genes and mechanisms have been identified ...
Yijun Tang, Yao Chen, Jiayi Wang, Qianwen Zhang, Yirou Wang, Yufei Xu, Xin Li, Jian Wang, Xiumin Wang   +8 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