Results 211 to 220 of about 445,228 (273)

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

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

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

Acquired 11β-hydroxylase Deficiency by Inhaled Etomidate and its Analogues: A Mimic of Congenital Adrenal Hyperplasia

Chin-Pang Lau, YT Cheung, TM Han, C. T. Y. Chung, Yeow Kuan Chong, Sammy Pak Lam Chen   +5 more
openalex   +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

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

Histopathological Features of the Testes of a Patient With Congenital Lipoid Adrenal Hyperplasia. [PDF]

IJU Case Rep
Sakata T, Mizuno K, Matsumoto D, Nishio H, Suzuki A, Aoyama K, Ishida A, Yasui T, Mizuno H, Hayashi Y.   +9 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

Beyond endocrine features in non-classical congenital adrenal hyperplasia: a narrative review of psychoneuro-social perspectives in pediatric and adolescent patients. [PDF]

Eur J Pediatr
Paparella R, Panvino F, Pucarelli I, Niceta M, Spaziani M, Spalice A, Pisani F, Ardizzone I, Tarani L.   +8 more
europepmc   +1 more source