Results 51 to 60 of about 29,100 (161)

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

Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]

, 2015
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V., Emmanouil, Dimitris E., Kontogiorgos, Elias D.   +2 more
core   +1 more source

Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women

Clinical Endocrinology, EarlyView.
ABSTRACT Context Androgen excess is common in women and refers to clinical or biochemical evidence of elevated androgenic steroids such as testosterone. It is associated with underlying polycystic ovary syndrome in the majority of cases. However severe androgen excess is less common and may indicate the presence of underlying adrenal or ovarian ...
Yasir S. Elhassan, James M. Hawley, Leanne Cussen, Ali Abbara, Sophie A. Clarke, Punith Kempegowda, Rima K. Dhillon‐Smith, Puja Thadani, Maureen Busby, Lucy Owusu‐Darkwah, Rachel Marrington, W. Colin Duncan, Robert K. Semple, Richard Quinton, Michael W. O'Reilly   +14 more
wiley   +1 more source

Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia

Frontiers in Endocrinology, 2020
Elevated 17-hydroxyprogesterone may be caused by congenital adrenal hyperplasia, ovarian or adrenal tumors. A positive cosyntropin stimulation test result for 17-hydroxyprogesterone may be found in functional or non-functional tumors and be related to ...
Wen-Hsuan Tsai, Chian-Huey Wong, Shuen-Han Dai, Chung-Hsin Tsai, Yi-Hong Zeng, Yi-Hong Zeng   +5 more
doaj   +1 more source

Adrenal Crisis [PDF]

, 2019
Glucocorticoid replacement therapy, available since the 1950s, has prolonged the survival of patients with adrenal insufficiency. However, adrenal crises, which are life-threatening medical emergencies, still develop in many affected patients.
Falhammar, Henrik, Rushworth, R Louise, Torpy, David J   +2 more
core   +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

Switching Patients With Congenital Adrenal Hyperplasia to Modified‐Release Hydrocortisone Capsules: Relative Bioavailability and Disease Control

Clinical Endocrinology, EarlyView.
ABSTRACT Background Replacement therapy with modified‐release hydrocortisone capsules (MRHC) restores the physiological circadian cortisol rhythm in congenital adrenal hyperplasia (CAH). Aims To determine the relative bioavailability of MRHC and evaluate an optimal protocol to switch CAH patients from standard therapy to MRHC.
Richard John M. Ross, Wiebke Arlt, Aude Brac de la Perriere, Angelica Lindén Hirschberg, Anders Juul, Deborah P. Merke, John D. C. Newell‐Price, Alessandro Prete, D. Aled Rees, Nicole Reisch, Monica Stikkelbroeck, Philippe A. Touraine, Kerry Maltby, Jo Quirke, Helen Coope, John Porter   +15 more
wiley   +1 more source

Tryptophan Suppresses FTH1‐Driven Ferritinophagy, a Key Correlate of Prognosis in Hepatocellular Carcinoma

Cell Proliferation, EarlyView.
Intracellular tryptophan levels modulate selective autophagy of FTH1 via the NCOA4 pathway. This autophagic process then inhibits 6‐HMT synthesis, which then results in an increase in reactive oxygen species and ferroptosis. ABSTRACT Hepatocellular carcinoma (HCC) remains a lethal malignancy with limited therapeutic options.
Xinxiang Cheng, Xin Ge, Chi Zhang, Xingye Yang, Zhengxin Yu, Min Zhang, Wen Cao, Qingtao Ni, Yang Liu, Songbing He, Yin Yuan   +10 more
wiley   +1 more source

Adrenal crises: perspectives and research directions [PDF]

, 2017
Adrenal crises (AC) are life-threatening complications of adrenal insufficiency (AI). These events have an estimated incidence of between 5 and 10 ACs/100 patient years (PY) and are responsible for some of the increased morbidity and excess mortality ...
Falhammar, H, Rushworth, R, Torpy, D
core   +2 more sources

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, EarlyView.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source