Results 111 to 120 of about 19,833 (220)

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

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
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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
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Periaortic fat thickness and cardiovascular risk factors in children with congenital adrenal hyperplasia

Objective: Children with congenital adrenal hyperplasia are considered to be at an elevated risk for cardiovascular morbidity and mortality. The objective of this study was to evaluate the association between periaortic fat thickness and the ...
Gün, Halil İbrahim, Akyürek, Nesibe, Eklioğlu, Beray Selver, Atabek, Mehmet Emre, Alp, Hayrullah   +4 more
core   +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

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  

STUDI LITERATUR: CONGENITAL ADRENAL HYPERPLASIA

Abstrak: Studi Literatur: Congenital Adrenal Hyperplasia. Congenital Adrenal Hyperplasia (CAH) dapat menyebabkan kelainan endokrin yang langka dan mengancam jiwa.
G Kayla, Baiq, M H., Amrullah, Savitri, Gaida Gita, A K Putri, Trisna, R Chusaeri, Andhito, Azmi, Ulul, Shaffiranisa, Elviena, H I., Zulfa, E Ajmala, Indana   +8 more
core   +1 more source

Congenital Adrenal Hyperplasia Presenting as an Adrenal Mass With Increased 18F-FDG Positron Emission Tomography Uptake

, 2017
This article describes congenital adrenal hyperplasia presenting as an adrenal mass with increased 18F-FDG positron emission tomography uptake.
Corina M Millo, Martha Quezado, Ashwini Mallappa, Deborah P Merke   +3 more
core   +1 more source

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

National 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, Bashir A Charoo, Iqbal A Qzai, Javeed I Bhat, Mushtaq A Sheikh, Ikhlas Ahmad, Wajid Ali Syed, Asif Ahmed   +7 more
doaj  

The role of primary cilia and sonic hedgehog signalling in adrenal development function.

, 2012
PhDPrimary cilia are sensory organelles found on most vertebrate cells during interphase. They play key roles in development, cell signalling and cancer, and are involved in signal transduction pathways such as Hh and Wnt signalling.
Cogger, Kathryn
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