Results 121 to 130 of about 401,716 (213)

CLINICAL PROFILE OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFIICIENCY

National Journal of Medical Research, 2016
Introduction: 21 Hydroxylase deficiency is the most common enzymatic deficiency seen in XX-DSDs. 11-deoxycorticosterone and 11-deoxycortisol are deficient in the most-severe, “salt-wasting” form of this disease.
Sheeraz A Dar, Bashir A Charoo, Iqbal A Qzai, Javeed I Bhat, Mushtaq A Sheikh, Ikhlas Ahmad, Wajid Ali Syed, Asif Ahmed   +7 more
doaj  

Periaortic fat thickness and cardiovascular risk factors in children with congenital adrenal hyperplasia

Objective: Children with congenital adrenal hyperplasia are considered to be at an elevated risk for cardiovascular morbidity and mortality. The objective of this study was to evaluate the association between periaortic fat thickness and the ...
Gün, Halil İbrahim, Akyürek, Nesibe, Eklioğlu, Beray Selver, Atabek, Mehmet Emre, Alp, Hayrullah   +4 more
core   +1 more source

STUDI LITERATUR: CONGENITAL ADRENAL HYPERPLASIA

Abstrak: Studi Literatur: Congenital Adrenal Hyperplasia. Congenital Adrenal Hyperplasia (CAH) dapat menyebabkan kelainan endokrin yang langka dan mengancam jiwa.
G Kayla, Baiq, M H., Amrullah, Savitri, Gaida Gita, A K Putri, Trisna, R Chusaeri, Andhito, Azmi, Ulul, Shaffiranisa, Elviena, H I., Zulfa, E Ajmala, Indana   +8 more
core   +1 more source

Editorial: Advanced genomic techniques for congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Çetinkaya S, Falhammar H.
europepmc   +1 more source

Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH), also known as adrenal gland hypoplasia or dysplasia, is a rare but serious condition that occurs in children. The adrenal glands play a crucial role in the human endocrine system, producing hormones responsible for ...
Temirovna, T. R. (Toyirova)
core  

Congenital Adrenal Hyperplasia in the Mediterranean: A Concise Overview. [PDF]

Pharmaceuticals (Basel)
Fanis P, Skordis N, Tomazou M, Phylactou LA, Neocleous V.   +4 more
europepmc   +1 more source

21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy. [PDF]

Case Rep Endocrinol
Kluge ML, Schema L, Schroepfer K, Thoreson EK, Sarafoglou K, Rowsey RA, Marcou CA, Moyer AM, Schultz MJ.   +8 more
europepmc   +1 more source

Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia. [PDF]

Front Genet
Zhao P, Qiu X, Lin Q, Huang T, Zeng Y, Zhou J, Xu L.   +6 more
europepmc   +1 more source

Exploring Factors Associated With Parental Acceptance-Rejection Among Parents of Children With Congenital Adrenal Hyperplasia in Central Java, Indonesia. [PDF]

J Genet Couns
Sari JI, Utari A, Ediati A.
europepmc   +1 more source

Congenital Clitoromegaly With Concurrent Congenital Adrenal Hyperplasia and Turner Syndrome: A Case Report. [PDF]

Clin Med Insights Endocrinol Diabetes
Tisler A, Copenhaver EA, Naji GF, Menon S.   +3 more
europepmc   +1 more source