Results 161 to 170 of about 32,077 (214)

Assessing cortisol levels in non-classical congenital adrenal hyperplasia: focus on the V281L variant. [PDF]

Ther Adv Endocrinol Metab
Bilici ME, Şıklar Z, Özsu E, Aycan Z, Uyanık R, Ceran A, Berberoğlu M.   +6 more
europepmc   +1 more source

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns. [PDF]

Genome Med
Liang D, Zhu M, Liang Q, Qiang R, Yu L, Xu S, Li M, Song J, Zhou Y, He X, Huang Y, Jin H, Tan J, Liu H, Xia A, Liu Y, Liu P, Li Z, Wang R, Wang D, Zhang R, Pu Q, Zhou J, Xu R, Wang X, Tan M, Chen D, Wu C, Cui D, Mao A, Zhou W, Qiu W, Wu L.   +32 more
europepmc   +1 more source

Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement. [PDF]

J Endocr Soc
Lawrence SE, Marcadier J, Auger S, Bariciak E, Chakraborty P, Chambers A, Eagle S, Kowalski M, Marr A, McIntosh N, Saleh DS, Santander E, Sinclair G, Wherrett DK, Henderson MPA.   +14 more
europepmc   +1 more source

Leptin and adiponectin in children and young persons with congenital adrenal hyperplasia. [PDF]

Eur J Endocrinol
Bacila IA, Lawrence NR, Alvi S, Cheetham TD, Crowne E, Das U, Dattani MT, Davies JH, Gevers E, Keevil B, Krone RE, Lawrie A, Patel L, Randell T, Ryan FJ, Ahmed SF, Krone NP.   +16 more
europepmc   +1 more source

21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation. [PDF]

Arch Dis Child
Olthof A, Bouva MJ, Claahsen-van der Grinten HL, Westra D, Dekkers E, Heijboer AC, Hannema SE, Boelen A.   +7 more
europepmc   +1 more source

Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient. [PDF]

Front Endocrinol (Lausanne)
Casiraghi A, Campi I, Federici S, Cernigliaro F, Menabò S, Persani L.   +5 more
europepmc   +1 more source

Life-Threatening Hyponatremia, Hyperkalemia, and Shock in Infancy: Not Always Congenital Adrenal Hyperplasia. [PDF]

Cureus
Chung WH, Kuok MCI, Chan KYW.
europepmc   +1 more source

Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency. [PDF]

JCEM Case Rep
Yousaf S, Nizar R, Alias G, Taylor D, Fulton P, Antoniadi T.   +5 more
europepmc   +1 more source

Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient. [PDF]

Reports (MDPI)
Krzyścin M, Brodowska A, Furtak G, Pietrzyk D, Zając K, Oder B, Przepiera A, Sowińska-Przepiera E.   +7 more
europepmc   +1 more source

Muscle pain in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency resolved with testosterone therapy. A case report with 10 years of follow-up. [PDF]

Front Endocrinol (Lausanne)
Hubska J, Jaszczuk P, Betlejewska J, Bylińska N, Bobrowicz M, Rak-Makowska B, Ambroziak U.   +6 more
europepmc   +1 more source