Results 41 to 50 of about 990,174 (349)

Towards a virtual research environment for paediatric endocrinology across Europe [PDF]

, 2009
Paediatric endocrinology is a medical specialty dealing with variations of physical growth and sexual development in childhood. Genetic anomalies that can cause disorders of sexual development in children are rare.
Ahmed, F., Jiang, J., Sinnott, R.O., Stell, A., Watt, J.   +4 more
core   +2 more sources

Metastatic dysgerminoma in a young patient with 46 XY DSD: A rare case report

Gynecologic Oncology Reports, 2021
The term DSD (Disorders of Sex development) is issued to define those conditions in whom disharmony exists between chromosomal, hormonal and anatomical sex. Parental and patient mental health and quality of life are adversely affected by these conditions.
Surekha Thakur, S.C. Saha, Pooja Sikka, Chandan Krushna Das, Kollabathula Arpitha, Uttam Kumar Thakur   +5 more
doaj  

How often are clinicians performing genital exams in children with disorders of sex development? [PDF]

, 2017
Background: We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic.
Eugster, Erica A., Tica, Stefani S.
core   +1 more source

Non-Syndromic 46,XY Disorders of Sex Development

Acta Medica Martiniana, 2018
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 ...
Gecz J, Breza J, Banovcin P
doaj   +1 more source

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Genome Biology, 2016
Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To
Stefanie Eggers, S. Sadedin, J. van den Bergen, Gorjana Robevska, T. Ohnesorg, J. Hewitt, L. Lambeth, A. Bouty, Ingrid M. Knarston, T. Tan, F. Cameron, G. Werther, J. Hutson, M. O’Connell, S. Grover, Y. Heloury, M. Zacharin, P. Bergman, C. Kimber, Justin Brown, N. Webb, M. Hunter, S. Srinivasan, Angela Titmuss, C. Verge, D. Mowat, G. Smith, Janine M. Smith, Lisa J Ewans, C. Shalhoub, P. Crock, C. Cowell, G. Leong, M. Ono, A. Lafferty, Tony Huynh, Uma Visser, C. Choong, F. McKenzie, N. Pachter, E. Thompson, J. Couper, A. Baxendale, J. Gécz, B. Wheeler, C. Jefferies, Karen E. Mackenzie, P. Hofman, Philippa J Carter, R. King, C. Krausz, C. V. van Ravenswaaij-Arts, L. Looijenga, S. Drop, S. Riedl, M. Cools, A. Dawson, A. Juniarto, V. Khadilkar, A. Khadilkar, V. Bhatia, V. C. Dũng, I. Atta, J. Raza, Nguyen thi Diem Chi, Hao Tran Kiem, V. Harley, P. Koopman, G. Warne, S. Faradz, A. Oshlack, K. Ayers, A. Sinclair   +72 more
semanticscholar   +1 more source

A Qualitative Study of Communication between Young Women with Disorders of Sex Development and Health Professionals [PDF]

, 2015
Background and Objectives. Health communication is a critical aspect of care for both providers and recipients having a direct influence on engagement and outcomes.
Carter, Bernie, Sanders, Caroline
core   +4 more sources

A Rare Presentation of Disorder of Sex Development [PDF]

Cureus, 2021
Disorder of sex development (DSD) is the term ascribed to a wide group of disorders presenting with congenital discord between chromosomal sex and phenotypic manifestation. Its incidence is 1 in 4500 births. 46 XX testicular DSD is a rare disorder characterized by the discordance between female karyotype and male phenotype. Its incidence is 1:20,000 to
Umal Azmat, Ahmed Siddiqui, Waqas Shafiq, Sara Ashfaq   +3 more
openaire   +3 more sources

Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing

Asian Journal of Andrology, 2020
46,XY disorders of sex development (DSD) is characterized by incomplete masculinization genitalia, with gonadal dysplasia and with/without the presence of Müllerian structures. At least 30 genes related to 46,XY DSD have been found. However, the clinical
Bingqing Yu, Zhaoxiang Liu, Yinjie Gao, Xi Wang, J. Mao, M. Nie, Xueyan Wu   +6 more
semanticscholar   +1 more source

Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.

Endocrine reviews, 2019
Differences/Disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex.
A. Wisniewski, R. Batista, E. Costa, C. Finlayson, M. Sircili, F. Dénes, S. Domenice, B. Mendonca   +7 more
semanticscholar   +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