Results 71 to 80 of about 30,274 (252)

Evaluating the Term ‘Disorders of Sex Development’: A Multidisciplinary Debate

Social Medicine, 2018
In 2014, almost 10 years after the 2005 International Consensus Conference on Intersex in Chicago, one of the conference co-organisers, under the auspices of a number of international paediatric endocrinology societies, launched the Global DSD Update to ...
Natalie Delimata, Margaret Simmonds, Michelle O’Brien, Georgiann Davis, Richard Auchus, Karen Lin-Su   +5 more
doaj  

Complete androgen insensitivity syndrome: A case report

Journal of Dr. NTR University of Health Sciences, 2019
Technology cannot replace clinical acumen. Think of complete androgen insensitivity syndrome (CAIS) in a female child with inguinal hernia. Diagnosis was missed in our patient when she presented with inguinal hernia the first time.
Suresh K Jariwala
doaj   +1 more source

Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)

International Journal of Environmental Research and Public Health, 2019
Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder resulting from maternally inherited or de novo mutations involving the androgen receptor gene, situated in the Xq11-q12 region.
L. Lanciotti, M. Cofini, A. Leonardi, M. Bertozzi, L. Penta, S. Esposito   +5 more
semanticscholar   +1 more source

Neuroendocrine mechanisms responsible for elevated gonadotrophin‐releasing hormone and luteinising hormone pulses in polycystic ovary syndrome

Journal of Neuroendocrinology, EarlyView.
Abstract Polycystic ovary syndrome (PCOS) is the leading cause of anovulatory infertility in premenopausal individuals with ovaries worldwide. Despite the diagnostic features of anovulation, ovarian cysts, and hyperandrogenemia, which indicate that ovary dysfunction is the cause of the syndrome, changes in central neuroendocrine circuits are a ...
Aleisha M. Moore
wiley   +1 more source

Complete androgen insensitivity syndrome: A rare case report

National Journal of Clinical Anatomy, 2022
Androgen receptor gene mutations on Xq12, which also have a 46XY karyotype abnormality, are the root cause of the X-linked uncommon recessive disorder of sex development known as androgen insensitivity syndrome (AIS).
Tushar Kambale, Payal Patel, Yaminy Pradeep Ingale, Charusheela Gore   +3 more
doaj   +1 more source

The Role of Cholesterol Metabolism and Its Regulation in Tumor Development

Cancer Medicine, Volume 14, Issue 7, April 2025.
ABSTRACT Background Within the tumor microenvironment, tumor cells undergo metabolic reprogramming of cholesterol due to intrinsic cellular alterations and changes in the extracellular milieu. Furthermore, cholesterol reprogramming within this microenvironment influences the immune landscape of tumors, facilitating immune evasion and consequently ...
Yongmei Wu, Wenqian Song, Min Su, Jing He, Rong Hu, Youbo Zhao   +5 more
wiley   +1 more source

Robust Syndrome Extraction via BCH Encoding [PDF]

arXiv, 2023
Quantum data-syndrome (QDS) codes are a class of quantum error-correcting codes that protect against errors both on the data qubits and on the syndrome itself via redundant measurement of stabilizer group elements. One way to define a QDS code is to choose a syndrome measurement code, a classical block code that encodes the syndrome of the underlying ...
arxiv  

A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation. [PDF]

PLoS ONE, 2016
A subset of patients with monogenic disorders lacks disease causing mutations in the protein coding region of the corresponding gene. Here we describe a recurrent germline mutation found in two unrelated patients with complete androgen insensitivity ...
Nadine C Hornig, Carine de Beaufort, Friederike Denzer, Martine Cools, Martin Wabitsch, Martin Ukat, Alexandra E Kulle, Hans-Udo Schweikert, Ralf Werner, Olaf Hiort, Laura Audi, Reiner Siebert, Ole Ammerpohl, Paul-Martin Holterhus   +13 more
doaj   +1 more source

Navigating the disclosure landscape: Parents' perspectives on healthcare professionals' role in supporting intersex children and families

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract Intersex, an umbrella term, describes individuals with sex characteristics that cannot be exclusively categorized into binary definitions of male or female. The intersex community faces a lack of social visibility perpetuated by a history of medical discrimination and pathologization shaped by “normalizing” genital surgeries without the child ...
Kayla Horowitz, Kimberly Zayhowski, Nicole Palmour, Darius Haghighat, Yann Joly   +4 more
wiley   +1 more source

ANDROGEN INSENSITIVITY SYNDROME – A CASE REPORT

International Journal of Medical and Biomedical Studies, 2021
Background:  AIS is one of the most commonly diagnosed XY DSD, with an estimated prevalence of 2:100.000 to 5:100.0001 and an incidence of 1:20.0002 to 1:99.0003. The name testicular feminization syndrome was coined by John McLean Morris of Yale University in 1953. The first description of this syndrome dates back to 1817, as quoted by Morris 4.
Neha Gala, Niharika Arram, Rohit K Phadnis, Faiz Hussain, Nikhita Yadav   +4 more
openaire   +2 more sources