Results 111 to 120 of about 32,144 (200)

Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency

open access: yesRevista Finlay, 2019
Background: congenital adrenal hyperplasia is the most frequent cause of sexual ambiguity in childhood. Molecular diagnosis is an element to be considered for the management and genetic counseling of patients and relatives at risk. Objective: to identify
Taimí Barrueta Ordóñez   +4 more
doaj   +2 more sources

Congenital Adrenal Hyperplasia [PDF]

open access: yesArchives of Disease in Childhood, 1964
S, RAITI, G H, NEWNS
openaire   +2 more sources

Acanthosis nigricans in association with congenital adrenal hyperplasia: resolution after treatment. Case report

open access: yesThe Turkish Journal of Pediatrics, 2005
A case is described of a three-day-old female with salt wasting type of 21-hydroxylase deficient congenital adrenal hyperplasia who presented with acanthosis nigricans of both axillae.
Selim Kurtoğlu   +3 more
doaj  

The value of serum levels of dehydroepiandrosterone sulfate as a screening test for late-onset congenital adrenal hyperplasia [PDF]

open access: yesEinstein (São Paulo), 2006
Objective: To evaluate the use of serum level of dehydroepiandrosteronesulfate as a screening test for late-onset congenital adrenal hyperplasia.Methods: Fourteen hirsute women with elevated serum levels ofdehydroepiandrosterone sulfate, 17 hirsute women
Marcos Yorghi Khoury   +5 more
doaj  

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

open access: yesNational 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   +7 more
doaj  

A boy or a girl? : Parental, family and whanau information needs when a child is born with an intersex/DSD condition : a thesis presented in fulfilment of the requirements for the degree of MPHIL in Nursing at Massey University, Auckland, New Zealand [PDF]

open access: yes, 2008
Is it a girl or a boy? This is a question that new parents assume will be answered at the birth, or even in the months leading up to the birth of their baby.
McCarthy, Gabrielle Leigh
core  

The ACTH test in the diagnosis of hirsutism

open access: yesSão Paulo Medical Journal
The ACTH test has been used to confirm the diagnosis of adrenal insufficiency and the classic and the non-classic adrenal hyperplasia due to the 3-HSD, 21 OH e 110H deficiencies.
Marco Fábio Prata Lima   +5 more
doaj   +1 more source

Amenorrhea Due to Defects in Steroid Biosynthesis [PDF]

open access: yes, 1975
Amenorrhea as the first manifestation of a steroid biosynthetic defect is rather unusual. The common forms of congenital adrenal hyperplasia are classic examples of steroid biosynthetic defects.
Mathur, Rajesh S., Williamson, H. Oliver
core   +1 more source

The Relative Prevalence of Testicular Adrenal Rest Tumors in Fewer than 20-Years-Old Boys with Congenital Adrenal Hyperplasia

open access: yesمجله دانشکده پزشکی اصفهان, 2014
Background: Testicular adrenal rest tumor (TART) is the presence of unspecified adrenocortical cells in the testis of patients with congenital adrenal hyperplasia (CAH) and is similar to the hyperplastic adrenal glands.
Mohammad Hassan Moadab   +2 more
doaj  

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