Results 71 to 80 of about 1,082 (133)

Comprehensive Quantitative Urinary Steroid Profiling of 29 Steroids Using Liquid Chromatography‐Tandem Mass Spectrometry

Analytical Science Advances, Volume 7, Issue 1, June 2026.
ABSTRACT Steroids are critical for numerous physiological processes; disruption in their metabolism is associated with numerous endocrine disorders. Steroid quantification is essential to improve the understanding and diagnosis of these pathologies. Historically, urinary steroid profiling has been performed using low‐throughput gas chromatography mass ...
Joshua T. Bain, Fozia Shaheen, Alessandro Prete, Lorna C. Gilligan, Angela E. Taylor   +4 more
wiley   +1 more source

Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report

Journal of Medical Case Reports, 2013
Introduction We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest ...
Ferreira Florbela, Martins João Martin, do Vale Sónia, Esteves Rui, Nunes Garção, Carmo Isabel do   +5 more
doaj   +1 more source

Massive adrenal incidentalomas and late diagnosis of congenital adrenal hyperplasia in prostate cancer

Endocrinology, Diabetes & Metabolism Case Reports, 2017
In a 61-year-old Caucasian male with prostate cancer, leuprolide and bicalutamide failed to suppress the androgens. He presented to endocrinology with persistently normal testosterone and incidental massive (up to 18 cm) bilateral adrenal myelolipomas ...
Xin Feng, Gregory Kline
doaj   +1 more source

A Neonate Presenting with Severe Dehydration - A Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis

Journal of Nepal Medical Association
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ.
Anita Lamichhane, Rekha Phuyel, Manish Upreti, Ramesh Khadka   +3 more
doaj   +1 more source

The Digital Native Paradox: A Framework for Critical Appraisal of Generative AI in Paediatric Medical Education

Journal of Paediatrics and Child Health, EarlyView.
Richard G. McGee
wiley   +1 more source

Case report: Clitoromegaly as a consequence of Congenital Adrenal Hyperplasia. An accurate medical and surgical approach

Urology Case Reports, 2018
We present a case of a woman with a history of Congenital Adrenal Hyperplasia (CAH) diagnosed at the age of 12, who was referred to our unit for surgical treatment.
Augusto Rafael Fernandez-Aristi, Andre Alonso Taco-Masias, Luis Montesinos-Baca   +2 more
doaj   +1 more source

Congenital Adrenal Hyperplasia [PDF]

Archives of Disease in Childhood, 1964
S, RAITI, G H, NEWNS
openaire   +2 more sources

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