Results 41 to 50 of about 168,585,466 (202)

Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam

Indian Journal of Endocrinology and Metabolism
Introduction: Differences of sex development (DSD) also known as disorders of sex development encompass a wide spectrum of conditions with varying clinical presentations across different age groups. This study aims to analyse various aetiologies of DSD
Praveen Nagarajaiah, Ashok K Bhuyan, Abhamoni Baro, Uma K Saikia   +3 more
doaj   +1 more source

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals

Scientifica, 2012
Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD,
Amy B. Wisniewski
doaj   +1 more source

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

Unveiling the Significance of the Androgen Receptor Gene in Disorders of Sex Development

Advances in Human Biology
Disorders of sex development (DSD) encompass a range of congenital conditions where the development of chromosomal, gonadal or anatomical sex is atypical. There are many genes associated with DSD, and one of them is the androgen receptor (AR) gene, which
Ziske Maritska, M Irsan Saleh, Fachmi Idris, Zen Hafy, Didit Pramudhito, Kemas Yusuf Effendi   +5 more
doaj   +1 more source

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

, 2015
International audienceDisorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these
Sandra Chantot‐Bastaraud, Sandra Rojo, Radu Harbuz, Matthieu Peycelon, Nicolas Perrot, Perrot, Nicolas, Piguel, Xavier, Hyon, Capucine, Chantot-Bastaraud, Sandra, Mcelreavey, Ken, Bhouri, Rakia, Peycelon, Matthieu, Bashamboo, Anu, Sibony, Mathilde, Rojo, Sandra, Harbuz, Radu, Capucine Hyon, Xavier Piguel, Gilbert-Dussardier, Brigitte, Frederic Bilan, Brigitte Gilbert‐Dussardier, Bilan, Frederic, Alain Kitzis, Mathilde Sibony, Kitzis, Alain, Rakia Bhouri, Anu Bashamboo, Ken McElreavey, Jean‐Pierre Siffroi, Siffroi, Jean-Pierre   +29 more
core   +1 more source

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development

Biomolecules, 2023
Gonadal development is the first step in human reproduction. Aberrant gonadal development during the fetal period is a major cause of disorders/differences of sex development (DSD).
Atsushi Hattori, Maki Fukami
doaj   +1 more source

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

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

Lower Urinary Tract Symptoms as Diagnostic Clues in Parkinsonism: A Practical Framework for Neurologists

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Lower urinary tract symptoms (LUTS) are among the most prevalent nonmotor complaints across the parkinsonian spectrum, yet they remain underutilized as diagnostic and management signals in neurology practice. Although prior reviews have characterized disease‐specific patterns of urinary dysfunction, and recent guidelines address ...
Saar Anis, Omer Anis, Abhishek Lenka, Junaid H. Siddiqui   +3 more
wiley   +1 more source

Disorders of sex development (DSD): an overview of recent scientific advances [PDF]

, 2014
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
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