Results 111 to 120 of about 401,716 (213)

Supraphysiological Glucocorticoid Doses and Pitfalls of Annual Biomarker Monitoring in Adults With CAH

Clinical Endocrinology, Volume 105, Issue 3, Page 360-362, September 2026.
Jakob Bolinder, Oskar Ragnarsson, Gudmundur Johansson   +2 more
wiley   +1 more source

Monitoring of Therapy in Congenital Adrenal Hyperplasia

, 2010
BACKGROUND Congenital adrenal hyperplasia is a group of disorders caused by defects in the adrenal steroidogenic pathways.
Joseph A Majzoub, Andrew Dauber, Mark Kellogg   +2 more
core   +1 more source

AAV-delivered hepato-adrenal cooperativity in steroidogenesis: Implications for gene therapy for congenital adrenal hyperplasia

Molecular Therapy: Methods & Clinical Development
Despite the availability of life-saving corticosteroids for 70 years, treatment for adrenal insufficiency is not able to recapitulate physiological diurnal cortisol secretion and results in numerous complications.
Lara E. Graves, Eva B. van Dijk, Erhua Zhu, Sundar Koyyalamudi, Tiffany Wotton, Dinah Sung, Shubha Srinivasan, Samantha L. Ginn, Ian E. Alexander   +8 more
doaj   +1 more source

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

Revista 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, Teresa Collazo Mesa, Paulina Lantigua Cruz, Adrián de Jesús González Navarro, Tania Espinosa Reyes   +4 more
doaj   +2 more sources

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

Einstein (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, Edmund Chada Baracat, Dolores Perovano Pardini, Rita de Cássia Castro, Odilon Victor Porto Denardin, Geraldo Rodrigues de Lima   +5 more
doaj  

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

The 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, M Emre Atabek, Mehmet Keskin, Ozlem Canöz   +3 more
doaj  

Congenital adrenal hyperplasia and clitoromegaly

, 1998
Congenital adrenal hyperplasia and ...
Peterson, C. Matthew
core  

P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia

, 2006
PURPOSE OF REVIEW: P450 oxidoreductase deficiency--a newly described form of congenital adrenal hyperplasia--typically presents a steroid profile suggesting combined deficiencies of steroid 21-hydroxylase and 17alpha-hydroxylase/17,20-lyase activities ...
Flück, Christa E, Miller, Walter L
core  

Testicular Adrenal Rest Tumor (TART) in congenital adrenal hyperplasia

, 2017
Congenital adrenal hyperplasia is one of the most common autosomal recessive genetic disorders. Testicular adrenal tumors are significant complications of congenital adrenal hyperplasia.
Ozisik, Hatice, Onay, Huseyin, Simsir, Ilgin Yildirim, Fusun Saygili, Guler, Ezgi, Utku Soyaltin, Ezgi Guler, Yurekli, Banu Sarer, Sarsik, Banu, Huseyin Onay, Soyaltin, Utku, Hatice Ozisik, Altun, Ilker, Banu Sarer Yurekli, Ilgin Yildirim Simsir, Banu Sarsik, Ilker Altun, Saygili, Fusun   +17 more
core   +1 more source

Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment [PDF]

Introduction and Purpose: Congenital adrenal hyperplasia represents a group of genetic disorders characterized by improper adrenal steroidogenesis, resulting in deficiency or absence of cortisol and/or aldosterone, and varying degrees of disturbances in ...
Fedorowicz, Sebastian, Basiak, Aneta, Targońska, Marta, Suława, Adrian, Buczek, Agnieszka, Madej, Adrianna, Ptasiński, Aleksander, Niekurzak, Rafał, Furgalska, Julia, Targoński, Oskar   +9 more
core