Results 51 to 60 of about 2,324 (113)

The impact of 21-hydroxylase deficiency on cardiac repolarization changes in children with 21-hydroxylasedeficient congenital adrenal hyperplasia

The Turkish Journal of Pediatrics, 2019
21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is associated with cardiovascular risk factors such as, hypertension, obesity, dyslipidemia, and insulin resistance.
Hüseyin Anıl Korkmaz, Rahmi Özdemir, Mehmet Küçük, Cem Karadeniz, Timur Meşe, Behzat Özkan   +5 more
doaj   +1 more source

Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review

The Turkish Journal of Pediatrics, 2012
Congenital adrenal hyperplasia (CAH) applies to a family of inherited disorders of steroidogenesis caused by an abnormality in one of the five enzymatic steps necessary in the conversion of cholesterol to cortisol.
Abdulmoein E Al-Agha, Ali H Ocheltree, Masha'el D Al-Tamimi   +2 more
doaj  

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Frontiers in Endocrinology, 2019
The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients' self ...
Duarte Pignatelli, Duarte Pignatelli, Duarte Pignatelli, Berta L. Carvalho, Berta L. Carvalho, Aida Palmeiro, Alberto Barros, Alberto Barros, Susana G. Guerreiro, Susana G. Guerreiro, Djuro Macut   +10 more
doaj   +1 more source

Relationship between adipokines and androgens in children and young adults with congenital adrenal hyperplasia

Frontiers in Endocrinology
IntroductionChildren and young adults with congenital adrenal hyperplasia (CAH) are at increased risk of obesity and insulin resistance. There is evidence that children with CAH have increased visceral adiposity, which has been linked to metabolic ...
Jennifer Apsan, Oksana Lekarev, Charlene Thomas, Yuan-Shan Zhu, Kaela Cohan, Karen Lin-Su   +5 more
doaj   +1 more source

Prednisolone impairs trabecular bone score changes in adolescents with 21-hydroxylase deficiency [PDF]

Clinical and Experimental Pediatrics
Background Individuals with 21-hydroxylase deficiency (21OHD) require lifelong glucocorticoid (GC) therapy, which increases their risk of fragility fractures.
Pattara Wiromrat, Yutapong Raruenrom, Phanpaphorn Namphaisan, Nantaporn Wongsurawat, Ouyporn Panamonta, Chatlert Pongchaiyakul   +5 more
doaj   +1 more source

Exchangeable Sodium and Aldosterone Secretion in Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency [PDF]

, 1970
B Loras, F. Haour, Jessica Bertrand
openalex   +1 more source

Absence of uterus and presence of verumontanum in a 46 XX patient with Congenital adrenal hyperplasia reared as male: A case report with literature review

Urology Case Reports
Congenital adrenal hyperplasia (CAH) is an inherited disorder causing adrenal hormone imbalance and organ overgrowth, leading to phenotype-genotype mismatches.
Rawa Bapir, Ismaeel Aghaways, Shaho F. Ahmed, Nali H. Hama, Ari M. Abdullah, Soran H. Tahir, Zana B. Najmadden, Fahmi H. Kakamad, Aso N. Qadir, Tomas M. Mikael   +9 more
doaj  

DETERMINATIONS OF PLASMA TESTOSTERONE (T) , 17-OH ROGESTERONE(17-OHP), ACTH & RENIN ACTIVITY (R.A) in THE TREATMENT CONTROL OF CONGENITAL ADRENAL HYPERPLASIA DUE TO C-21 HYDROXYLASE DEFICIENCY (C-21 AH) [PDF]

, 1975
M David, Patricia Gilet, Laurent David
openalex   +1 more source

Unusual heterozygotes (HE) of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency [PDF]

, 1978
M. Zachmann
openalex   +1 more source

Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency

Indian Journal of Endocrinology and Metabolism, 2013
Fertility in women with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) appears to be reduced, especially in women with the classic salt-wasting type.
Mouna Feki Mnif, Mahdi Kamoun, Faten Hadj Kacem, Fatma Mnif, Nadia Charfi, Basma Ben Naceur, Nabila Rekik, Mohamed Abid   +7 more
doaj   +1 more source