Results 101 to 110 of about 32,077 (214)

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

Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]

, 2010
Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
Bonfig, W., Schwarz, H. P.
core   +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

Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples [PDF]

, 2011
The deficiency of the enzyme 21-hydroxylase (21-HO) is responsible for about 90% to 95% of all cases of congenital adrenal hyperplasia (HCSR). This disorder is one of the most frequent hereditary illnesses of autosomal recessive trait. The illness can be
Baptista, C, Carrilho, F, Carvalheiro, M, Gonçalves, J, Paiva, S, Ruas, L, Silva, J, Vieira, A   +7 more
core  

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

Congenital Adrenal Hyperplasia [PDF]

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

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

بررسی 10 ساله تظاهرات بالينی و شيوع انواع هيپرپلازی مادرزادی آدرنال در انستيتو غدد درون‌ريز و متابوليسم [PDF]

, 2005
زمينه و هدف: هيپرپلازی مادرزادی آدرنال( Congenital Adrenal Hyperplasia=CAH ) شامل گروهی از بيماری‌های ارثی است که به علت نقص‌های آنزيمی در مسير سنتز کورتيزول از کلسترول ايجاد می‌شود و به اشکال مختلف؛ ابهام تناسلی و کريز آدرنال در شيرخواران، بلوغ زودرس در
روحانی, فرزانه, گريگوريان, آرتین   +1 more
core  

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