Results 31 to 40 of about 32,077 (214)

Bilateral testicular adrenal rest tumors in a patient with nonclassical congenital adrenal hyperplasia

IJU Case Reports, 2021
Introduction Solid testis tumors in post‐pubertal males usually represent germ cell malignancies; however, other uncommon or rare histologies must be considered.
Erica C Roberts, Samantha W Nealon, Jasreman Dhillon, John B Tourtelot, Bryan McIver, Wade J Sexton   +5 more
doaj   +1 more source

Congenital Adrenal Hyperplasia

Annals of Saudi Medicine, 1991
The incidence of congenital adrenal hyperplasia in Saudi Arabia and the frequency of the carrier rate are not well known. Both figures should be high, considering the commonness of first-degree consanguinity in this part of the world. We present 25 cases of congenital adrenal hyperplasia, most of them due to a defect of the 21 hydroxylase enzyme ...
H, Salman, A, Abanamy, B, Ghassan, M, Khalil   +3 more
openaire   +2 more sources

Reconstructive plastic surgery for congenital adrenal hyperplasia in girl [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy, 2016
Congenital adrenal hyperplasia - congenital disease the cause of which is a genetic defect in the enzymes involved in the synthesis of corticosteroids, and transport proteins leading to hyperandrogenism and is accompanied by abnormalities of internal and
Daulet Zharassov
doaj   +1 more source

Growth Characteristics in Children with Congenital Adrenal Hyperplasia Visiting Tertiary Care Hospital, Karachi

Pakistan Armed Forces Medical Journal, 2023
Objective: To determine the growth characteristics in children with congenital adrenal hyperplasia visiting tertiary care hospital Karachi. Study Design: Cross-Sectional study.
Abdul Qayyum, Versha Rani Rai, Roshia Memom, Shazia Mahar, Taj Muhammad Laghari, Mohsina Noor Ibrahim   +5 more
doaj   +1 more source

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

, 2013
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 ...
Ahmed, Ahmed, Ahmed, Ahmed, Akre, Antonio Balsamo, Bangsbøll, Bebermeier, Berger, De Groote, Dolk, Duguid, Feyza Darendeliler, Flück, Gottlieb, Guerrier, Hiort, Hughes, Hughes, Hughes, Ieuan Hughes, Jillian Bryce, Jipu Jiang, Kathryn Cox, Kreidberg, Köhler, Laura Audi, Lidka Lisa, Martina Rodie, Martine Cools, Melià, Miles, Mona Alkhawari, Mona Ellaithi, Morcel, Nabhan, Nils Krone, Nowaczyk, Olaf Hiort, Olle Soder, Ono, Pang, Paul-Martin Holterhus, Peter Wieacker, Porter, Richard Sinnott, S. Faisal Ahmed, Silvano Bertelloni, Stenvert Drop, Sun, Telvi, Thyen, Tokgoz, Tosson, Tulay Guran, Wiebke Arlt, Yang, Yinon, Yves Morel   +58 more
core   +3 more sources

NonClassic Congenital Adrenal Hyperplasia [PDF]

International Journal of Pediatric Endocrinology, 2010
Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias ...
Witchel, Selma Feldman, Azziz, Ricardo
openaire   +4 more sources

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]

, 2017
Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan, Chen, Chao, Cheng, Jian, Guo, Fengyu, Hu, Ping, Jiang, Tao, Luo, Chunyu, Ma, Dingyuan, Sun, Yun, Wang, Jian, Wang, Wei, Wang, Yaoshen, Xu, Zhengfeng, Yang, Huanming, Yi, Xin, Yuan, Yuan, Zhang, Jingjing   +16 more
core   +2 more sources

Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells

IJU Case Reports, 2020
Introduction Congenital lipoid adrenal hyperplasia is a rare disease that causes disorders of sex development. The 46,XY patient presents with female external genitalia and inguinal testes. We describe the case of a patient with congenital lipoid adrenal
Kanako Matsuoka, Yuichi Sato, Seiji Hoshi, Tomoyuki Koguchi, Soichiro Ogawa, Tomohiro Ishii, Nobuhiro Haga, Tomonobu Hasegawa, Yoshiyuki Kojima   +8 more
doaj   +1 more source

Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment

Quality in Sport
Introduction and Purpose: Congenital adrenal hyperplasia represents a group of genetic disorders characterized by improper adrenal steroidogenesis, resulting in deficiency or absence of cortisol and/or aldosterone, and varying degrees of disturbances in ...
Oskar Targoński, Marta Targońska, Adrianna Madej, Adrian Suława, Julia Furgalska, Sebastian Fedorowicz, Aneta Basiak, Aleksander Ptasiński, Rafał Niekurzak, Agnieszka Buczek   +9 more
doaj   +1 more source

Adult congenital adrenal hyperplasia [PDF]

Postgraduate Medical Journal, 1966
CONGENITAL adrenal hyperplasia is a rare disease of adults. Probably the oldest recorded case in the literature is of a 57-year-old woman (Logan and McMillan, 1964) who presented as an abdominal emergency. Most of the published reports and standard references are concerned with the biochemical data and there is little suggestion of a characteristic ...
F, Carswell, R W, Logan, A, Allison
openaire   +2 more sources