Results 91 to 100 of about 423,582 (318)

Demographic Characteristics and Clinical Findings in Patients with Congenital Adrenal Hyperplasia in Isfahan City, Iran

مجله دانشکده پزشکی اصفهان, 2018
Background: Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia, which can be obscured by ambiguous genitalia, weight loss, and premature pubarche.
Ranasadat Saleh, Mahin Hashemipour
doaj   +1 more source

Acute onset neurological deficits and hypocalcaemia associated with nutritional secondary hyperparathyroidism in three juvenile servals (Leptailurus serval)

Australian Veterinary Journal, EarlyView.
Nutritional secondary hyperparathyroidism is a metabolic disorder caused by an imbalance in calcium homeostasis and is typically associated with the feeding of a calcium‐deficient diet. Nutritional secondary hyperparathyroidism has been reported in domestic species, including cats and dogs, as well as captive carnivores and wildlife including lions ...
JL Austen, JW Wheelahan, J O'Dwyer, S Beths, NL Rourke, BR Gardner   +5 more
wiley   +1 more source

A Phase 2 Study of Continuous Subcutaneous Hydrocortisone Infusion in Adults With Congenital Adrenal Hyperplasia.

Journal of Clinical Endocrinology and Metabolism, 2016
CONTEXT Classic congenital adrenal hyperplasia (CAH) management remains challenging, given that supraphysiologic glucocorticoid doses are often needed to optimally suppress the ACTH-driven adrenal androgen overproduction. OBJECTIVE This study sought to
A. Nella, A. Mallappa, Ashley F. Perritt, V. Gounden, Parag Kumar, N. Sinaii, L. Daley, A. Ling, Chia-Ying Liu, S. Soldin, D. Merke   +10 more
semanticscholar   +1 more source

Pharmacological evaluation of non‐nucleotide purine derivatives as P2X7 antagonists for the treatment of neuroinflammation in traumatic brain injury

British Journal of Pharmacology, EarlyView.
Background and purpose Traumatic brain injury (TBI) is considered to be a leading cause of mortality and disability worldwide. After TBI, innate immunity is rapidly activated in response to damage‐associated molecular patterns, such as ATP release, recognised by P2X7 receptors.
Inés Valencia, Andrea Pastor‐Martínez, Céline Decouty‐Pérez, Ana Belen Lopez‐Rodriguez, María Álvarez‐Rubal, Eva Ramos, Francesco Calzaferri, Jorge Zamorano‐Fernández, Javier Giner‐García, Alexis J. Palpán‐Flores, Víctor Rodríguez‐Domínguez, Javier Rodríguez de Cía, Borja J. Hernández‐García, Alejandro Romero, Cristóbal de los Ríos, Javier Egea   +15 more
wiley   +1 more source

Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency [PDF]

, 2010
Objective: Patients with congenital adrenal hyperplasia due to P450 oxidoreductase (POR) deficiency(ORD) present with disordered sex development and glucocorticoid deficiency.
Arlt, Bebia, Chang, de Morais, Dominique Maiter, Dorota Tomalik-Scharte, Fl  ck, Fuhr, Gomes, Hannah E Ivison, Henderson, Jetter, Julia Kirchheiner, Kelley, Kirchheiner, Kranendonk, Nebert, Nicolo, Parkinson, Porter, Ribes, Sachse, Tantcheva-Po  r, Tomalik-Scharte, Uwe Fuhr, Wiebke Arlt   +25 more
core   +2 more sources

Congenital Adrenal Hyperplasia: A Review of Current Knowledge and Future Directions

Quality in Sport
Introduction: Congenital adrenal hyperplasia (CAH) is a group of diseases in which genetic defects occur that disturb the synthesis of cortisol. The most common variant of CAH (95%-99%) is caused by 21-hydroxylase deficiency as a result of mutations in ...
Zuzanna Szczepaniak, Agata Konopka, Natalia Wdowiak, Karina Lissak, Małgorzata Komarów, Martyna Choinka, Dominika Karasińska, Jakub Kalisiak   +7 more
doaj   +1 more source

Salivary Testosterone, Androstenedione and 11‐Oxygenated 19‐Carbon Concentrations Differ by Age and Sex in Children

Clinical Endocrinology, EarlyView.
ABSTRACT Background The diagnosis and management of childhood adrenal disorders is challenging. Clinical markers of hormone excess or deficiency may take months to manifest, and traditional biomarkers correlate only partially with clinical outcomes.
Julie Park, Andrew Titman, Orla Bright, Silothabo Dliso, Alena Shantsila, Gregory Y. H. Lip, Jo Adaway, Brian Keevil, Daniel B. Hawcutt, Joanne Blair   +9 more
wiley   +1 more source

Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. [PDF]

, 1996
Inherited pheochromocytomas are often part of familial syndromes, especially multiple endocrine neoplasia type 2 (MEN 2), retinal cerebellar hemangioblastomatosis [von Hippel-Lindau (vHL) disease] or neurofibromatosis type 1.
Crossey, P.A., Engelhardt, D., Frilling, A., Höppner, W., Maher, E.R., Mulligan, L., Ponder, B.A.J., Ritter, M.M.   +7 more
core   +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

Delayed Bone Maturation and Extended Growth Phase as Distinctive Features of 17α‐Hydroxylase/17,20‐Lyase Deficiency: A Retro‐Prospective Study of a Large Patient Cohort

Clinical Endocrinology, EarlyView.
ABSTRACT Introduction Worldwide, combined 17‐hydroxylase/17,20‐lyase deficiency (CYP17D) is a rare form of congenital adrenal hyperplasia, but it is the second most prevalent type in Brazil. An absence of sexual differentiation and hypergonadotropic hypogonadism arise from a reduction in the usual pattern of sex steroid formation in the adrenals and ...
Rafaela Fontenele, Flávia A. Costa‐Barbosa, Marivânia Costa‐Santos, Rafael L. Batista, Lívia M. Mermejo, Berenice B. Mendonça, Margaret de Castro, Gil Guerra‐Júnior, Claudio E. Kater, Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group (BCAHMSG)   +9 more
wiley   +1 more source