Results 71 to 80 of about 9,016 (186)

Novel associations in disorders of sex development: findings from the I-DSD registry [PDF]

, 2014
Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report ...
Sinnott, Richard, Ahmed, S Faisal, Alkhawari, M. (Mona), Darendeliler, F, Balsamo, Antonio, Sinnott, R. (Richard), Cools, M.B.C.M. (Martine), Arlt, W, Drop, S, Hiort, O. (Olaf), O. Hiort, Audi, L, Jiang, J, Bertelloni, Silvano, N. Krone, L. Lisa, Morel, Y. (Yves), Soder, O, Darendeliler, Feyza, Y. Morel, Hior, O, P. Wieacker, Wieacker, P. (Peter), Hiort, Olaf, Balsamo, A. (Antonio), Ahmed, S.F. (Sayed), Holterhus, Paul-Martin, I. Hughes, O. Soder, Darendeliler, F. (Feyza), J. Jiang, Holterhus, P-M. (Paul-Martin), Bryce, J. (Jillian), Balsamo, A, M. Cools, Hughes, Ieuan, Krone, N, Lisa, Lidka, Morel, Yves, Arlt, W. (Wiebke), Soder, O. (Olle), Ellaithi, M, Hughes, I. (Ieuan), Jiang, J (John), L. Audi, Arlt, Wiebke, Jiang, Jipu, Drop, Sten, Audi, Laura, Hiort, O, F. Darendeliler, M. Ellaithi, Audi, S. (Salma), Bertelloni, S, Sinnott, R, Holterhus, PM, K. Cox, Krone, Nils, Guran, T. (Tulay), Drop, S.L.S. (Stenvert), Bryce, Jillian, Drop, Stenvert, Bertelloni, S. (Silvano), Ellaithi, M. (Mona), Morel, Y, Cools, M, Ahmed, SF, Rodie, Martina, R. Sinnott, Jiang, J. (John), Wieacker, Peter, Alkhawari, Mona, Cox, K, S. F. Ahmed, Lisa, E. (Elena) de, J. Bryce, Cools, Martine, Lisa, L, Cools, M (Martine), Guran, Tulay, S. Bertelloni, Rodie, M. (Martina), M. Alkhawari, M. Rodie, Guran, T, S. Drop, Wieacker, P, Hughes, I, Krone, B., Darendeliler, Fatma Feyza, Soder, Olle, Ahmed, S. Faisal, T. Guran, Cox, K. (Kathryn), Alkhawari, M, Cox, Kathryn, P. M. Holterhus, Rodie, M, Bryce, J, W. Arlt, Ellaithi, Mona   +100 more
core   +1 more source

Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature

Balkan Journal of Medical Genetics, 2019
Disorders of sex development (DSD) are a group of rare conditions characterized by discrepancy between chromosomal sex, gonads and external genitalia.
Tasic V, Mitrotti A, Riepe FG, Kulle AE, Laban N, Polenakovic M, Plaseska-Karanfilska D, Sanna-Cherchi S, Kostovski M, Gucev Z   +9 more
doaj   +1 more source

True hermaphrodite presenting as primary amenorrhea

Indian Journal of Endocrinology and Metabolism, 2012
True hermaphrodite is one of the rare variety of disorders of sex development. Most of them are genotypically females (46 XX) and present as under virilized males. Features of hyperandrogenism are present in those reared as females.
Lal Bahadur Palo, Mary Daniel, Alaganandam Padma, Jaya Prakash Sahoo   +3 more
doaj   +1 more source

Recurrent Abdominal Pain in Female Adolescence: An Overlooked Diagnosis

Acta Médica Portuguesa
n/a.
Ana Bandeira Santos, Ana Sofia Gomes, Cidade Rodrigues, Hélder Ferreira, Paula Fonseca   +4 more
doaj   +1 more source

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes

BMC Genomics, 2009
Background Gender appears to be determined by independent programs controlled by the sex-chromosomes and by androgen-dependent programming during embryonic development.
Appari Mahesh, Cario Gunnar, Richter-Unruh Annette, Demeter Janos, Werner Ralf, Bebermeier Jan-Hendrik, Holterhus Paul-Martin, Siebert Reiner, Riepe Felix, Brooks James D, Hiort Olaf   +10 more
doaj   +1 more source

46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China

Frontiers in Genetics, 2020
The present study describes the first prenatally diagnosed 46,XX testicular disorders of sex development (46,XX testicular DSD) case with DMD gene mutation by integrated analyses in a Chinese pedigree.
Jianlian Deng, Jianlian Deng, Haoqing Zhang, Caiyun Li, Hui Huang, Saijun Liu, Huanming Yang, Huanming Yang, Kaili Xie, Qiong Wang, Dongzhu Lei, Jing Wu   +11 more
doaj   +1 more source

Long-term outcomes in non-CAH 46,XX DSD

Frontiers in Endocrinology
Differences/disorders of sex development (DSD) comprise a large group of rare congenital conditions. 46,XX DSD, excluding congenital adrenal hyperplasia (CAH), represent only a small number of these diseases.
Virginie Grouthier, Virginie Grouthier, Anne Bachelot, Anne Bachelot   +3 more
doaj   +1 more source

A Boy with 46,XX Karyotype (SRY Double-positive) and a Leydig Cell Tumor

JCRPE
Leydig cell tumors are the most common type of testicular sex cord stromal tumors. The presence of the Y chromosome is associated with tumor risk in sex development disorders (DSD), however tumor development without Y chromosome is extremely rare.
Merve Güllü, Sultan Aydın, Tarkan Kalkan, Tangül Pınarcı, Doğa Türkkahraman   +4 more
doaj   +1 more source

Disorders of Sex Development in an Infant (46, XX)-A Case Report and Review of Literature

Human Genetics & Embryology, 2017
Background: Disorders of sex development (DSD) are congenital conditions in where there is a disagreement between phenotypic sex and genotypic sex. They involve problems of management and beliefs in developing countries. We report here a ten months old Congolese infant with abnormal external genitalia and make a mini review on the normal embryonic ...
Poaty H, Ondima I, Moyen E, Demba Diop JP, Moukouma C, Ndiaye R   +5 more
openaire   +1 more source

46,XX Testicular Disorder of Sex Development (DSD) Presenting With Male Hypogonadism

JCEM Case Reports
Abstract Disorders of sex development are genetically complex, and phenotypes range from hypospadias to completely masculinized or feminized genitalia with a discordant karyotype. They arise as a result of alterations in gonad formation (sex determination stage) or function (sex differentiation stage).
Run Ting Chin, Shao Feng Mok
openaire   +2 more sources