Results 61 to 70 of about 169,144,440 (149)

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

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

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

, 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   +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 or Differences of Sex Development? Views of Affected Individuals on DSD Terminology

, 2020
Over a decade ago, the participants at the International Consensus Conference on Intersex proposed Disorders of Sex Development (DSD) as an umbrella term for “congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is ...
Gehrmann, Katharina, Koehler, B, Köhler, Birgit, Lee, Peter, Bouvattier, C, Bennecke, E, Nordenstroem, A, Bouvattier, Clair, Cohen-Kettenis, P, Bennecke, Elena, Röhle, Robert, Gehrmann, K, Thyen, U, Nordenström, Anna, Cohen-Kettenis, Peggy, Thyen, Ute, Roehle, R, Lee, P, Wiesemann, C, Wiesemann, Claudia   +19 more
core   +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

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development [PDF]

, 2016
Background: SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and
Kim, Gwang-Jin, Troppmann, Elke, Mann, Jillian, Hiort, Olaf, Zipf, William, Rostásy, Moritz, Costigan, Colm, Wegner, Michael, Rösler, Bernd, Radi, Orietta, Denzer, Friederike, Wieacker, Peter, Buchberger, Astrid, German, James, Kramer, Mildred, Scherer, Gerd, Hoepffner, Wolfgang, Arnold, Hans-Henning, Camerino, Giovanna, Salfelder, Anika, Cole, Trevor, Georg, Ina, Widholz, Sebastian A., Schmiady, Hardi, Teichmann, Anne-Christin, Just, Walter, Seguin, John H., Kaltenbach, Simon, Sock, Elisabeth   +28 more
core   +1 more source