Results 101 to 110 of about 32,087 (214)

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

Altura final na hiperplasia suprarrenal congênita: o dilema do hipercortisolismo versus hiperandrogenismo [PDF]

, 2013
OBJECTIVE: The purpose of this study was to identify factors that might interfere with reaching the final height in patients with 21-hydroxylase deficiency (21-OHD).
Chagas, Antônio José das, Cordeiro, Giovana Vignoli, Goulart, Eugênio Marcos Andrade, Kater, Claudio Elias, Silva, Ivani Novato   +4 more
core   +2 more sources

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

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

Adrenogenital syndrome: molecular mechanisms of development [PDF]

, 2017
Резюме. На довгому, багатоступінчастому шляху біосинтезу стероїдних гормонів від холестеролу до кортизолу, тестостерону й естрадіолу внаслідок мутацій генів виникає недостатність ферментів стероїдогенезу в надниркових залозах: холестерол-десмолази, 3β ...
Пішак, В.П., Ризничук, М.О.   +1 more
core   +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

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  

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