Results 31 to 40 of about 11,498 (161)

A Case of Prenatally Diagnosed Congenital Adrenal Hyperplasia With Brain Morphometric Differences

Journal of Investigative Medicine High Impact Case Reports, 2022
We report a case of a fetus with a prenatal diagnosis of classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Although CAH is typically assessed postnatally, this fetal case had multiple prenatal clinical assessments made ...
Vidya Rajagopalan PhD, Lloyd Nate Overholtzer BSc, William S. Kim BA, Jessica L. Wisnowski PhD, David A. Miller MD, Mitchell E. Geffner MD, Mimi S. Kim MD, MSc   +6 more
doaj   +1 more source

Vibronic Spectroscopy of Sympathetically Cooled CaH⁺ [PDF]

ChemPhysChem, 2016
AbstractWe report the measurement of the 11Σ→21Σ transition of CaH+ by resonance‐enhanced photodissociation of CaH+ that is co‐trapped with laser‐cooled Ca+. We observe four resonances that we assign to transitions from the vibrational v=0 ground state to the v′=1–4 excited states based on theoretical predictions.
René Rugango, Aaron T. Calvin, Smitha Janardan, Gang Shu, Kenneth R. Brown   +4 more
openaire   +3 more sources

A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia

Ожирение и метаболизм
Multiple endocrine neoplasia type 1 (MEN1) and congenital adrenal hyperplasia (CAH) are rare monogenic hereditary endocrinopathies with a prevalence of 1–9 cases per 100,000 and 9–15 cases per 100,000, respectively.
A. S. Bondarenko, E. O. Mamedova, Zh. E. Belaya, G. A. Melnichenko   +3 more
doaj   +1 more source

Congenital adrenal hyperplasia: Treatment and outcomes

Indian Journal of Endocrinology and Metabolism, 2013
Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders where there is impairment of cortisol biosynthesis. CAH due to 21-hydroxylase deficiency accounts for 95% of cases and shows a wide range of clinical severity ...
Mahdi Kamoun, Mouna Mnif Feki, Mohamed Habib Sfar, Mohamed Abid   +3 more
doaj   +1 more source

Different hypoxic response of human CAVII and Caenorhabditis elegans homologous genes CAH-3, CAH-4, CAH-5

Turkish Journal of Biology
Background/aim: A number of carbonic anhydrase (CA) family proteins have been implicated in cancer. They contribute to the hypoxic microenvironment. CAVII is often downregulated in colorectal carcinoma and it has been associated with increased tumor size, node metastasis, and adverse clinical outcomes.
Bozkurt, Aysu, Türkoğlu, Sümeyye Aydoğan, Poyrazlı, Fatma, Okuyan, Derya   +3 more
openaire   +4 more sources

Corrigendum: A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia. (Obesity and metabolism. 2024;21(1):79-84. doi: https://doi.org/10.14341/omet13015)

Ожирение и метаболизм
A corrigendum on "A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal ­Hyperplasia" by Axenia S. Bondarenko, Elizaveta O. Mamedova, Zhanna E. Belaya, Galina A. Melnichenko (2024). Obesity and metabolism. 2024;21(1)
A. S. Bondarenko, E. O. Mamedova, Zh. E. Belaya, G. A. Melnichenko   +3 more
doaj   +1 more source

Health-related quality of life of female patients with congenital adrenal hyperplasia in Malaysia

Health and Quality of Life Outcomes, 2020
Background This study investigates the health-related quality of life (HRQOL) of female patients with congenital adrenal hyperplasia (CAH) in Malaysia. The objectives were to attain socio-demographic and medical data on these Malaysian females with CAH ...
Ani Amelia Zainuddin, Sonia Regina Grover, Nur Azurah Abdul Ghani, Loo Ling Wu, Rahmah Rasat, Mohd. Rizal Abdul Manaf, Khadijah Shamsuddin, Zaleha Abdullah Mahdy   +7 more
doaj   +1 more source

Diagnosis and prevalence of Congenital Adrenal Hyperplasia (CAH) in Austrian children screened or not screened for CAH [PDF]

International Journal of Pediatric Endocrinology, 2013
Prevalence of Congenital Adrenal Hyperplasia (CAH) is not exactly known in the Austria; a number of patients with CAH might not be diagnosed, especially males. CAH is in about 95 % of the cases due to a defect in the 21-hydroxylation (‘classical CAH’). Newborn screening for CAH, based on the measurement of 17α-hydroxyprogesterone (17-OHP) was shown to ...
Luxenberger, Katharina, Kasper, David, Fröhlich-Reiterer, Elke, Suppan, Elisabeth, Weinhandl, Gudrun, Borkenstein, Martin   +5 more
openaire   +1 more source

Fasting GLP-1 Levels in Women with PCOS and CAH

Acta Medica Bulgarica
Polycystic ovarian syndrome (PCOS) is the most prevalent condition associated with increased androgens, but some rare diseases, e.g., congenital adrenal hyperplasia (CAH), should also be considered in the differential diagnosis of hyperandrogenemia.
Robeva R., Kirilov G., Elenkova A., Zacharieva S.   +3 more
doaj   +1 more source

Nonclassical Congenital Adrenal Hyperplasia and Pregnancy

Case Reports in Endocrinology, 2015
Objective. The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase (21-OH) deficiency due to mutation of the CYP21A2 gene. Patients with nonclassical CAH (NC-CAH) are usually asymptomatic at birth and typically present in late ...
Neslihan Cuhaci, Cevdet Aydın, Ahmet Yesilyurt, Ferda Alpaslan Pınarlı, Reyhan Ersoy, Bekir Cakir   +5 more
doaj   +1 more source