Results 91 to 100 of about 38,744 (248)
Pre-hospital management of acute Addison’s Disease – Audit of patients attending a referral hospital in a regional area [PDF]
, 2019 Context: Adrenal crises (AC) cause morbidity and mortality in patients with Addison’s disease [primary adrenal insufficiency (PAI)]. Patient-initiated oral stress dosing, with parenteral hydrocortisone, is recommended to avert ACs. While these should be
Goubar, Thomas +3 more
core +1 more source
Incentive processing in Congenital Adrenal Hyperplasia (CAH): a reward-based antisaccade study [PDF]
, 2013 Little is known about how steroid hormones contribute to the beneficial effect of incentives on cognitive control during adolescent development. In this study, 27 adolescents with Congenital Adrenal Hyperplasia (CAH, mean age 15.6 years, 12 female), a ...
Carlisi, Christina +8 more
core +2 more sources
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT Aldosterone synthase deficiency is a rare cause of neonatal salt‐wasting and failure to thrive. Routine newborn electrolyte screening after 5 days of life is vital for early detection and prevention of life‐threatening crises. Genetic confirmation enables targeted fludrocortisone therapy, ensuring favorable growth and developmental outcomes.
Mian Muhammad Hassan Ahmed +4 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
A Novel SCNN1B Mutation in a Neonate With Systemic Pseudohypoaldosteronism Type 1: Case Report
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT Early recognition of PHA1B in neonates with persistent hyperkalemia and hyponatremia is important for timely intervention. Genetic testing confirms the diagnosis, guiding long‐term management. This case highlights a novel SCNN1B mutation, expanding the genetic spectrum and emphasizing the need for lifelong monitoring to prevent life ...
Ensiyeh Bahadoran +2 more
wiley +1 more source
Disorders of sex development (DSD): an overview of recent scientific advances [PDF]
, 2014 Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
core
The "backdoor pathway" of androgen synthesis in human male sexual development. [PDF]
, 2019 Mammalian sex determination (male versus female) is largely controlled by genes, whereas sex differentiation (development of reproductive structures) is largely controlled by hormones. Work in the 20th century indicated that female external anatomy was a
Auchus, Richard J, Miller, Walter L
core +2 more sources
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.First Chinese neonatal cases of systemic PHA1B from novel compound‐heterozygous SCNN1B variants (c.585+2T>C; c.1544T>C) presented with life‐threatening hyperkalemia and hyponatremia unresponsive to steroids. Early genetic testing enabled targeted sodium supplementation and potassium‐binding therapy, normalizing electrolytes and underscoring SCNN1B ...
Zhiping Wang, Lijuan Long, Hongjuan Bi
wiley +1 more source
Congenital Adrenal Hyperplasia in Adults [PDF]
, 2010 Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting adrenal steroid synthesis. More than 95% of CAH cases are caused by reduced 21-hydroxylase function leading to variable extent of cortisol and aldosterone deficiency in ...
Falhammar, Henrik
core +1 more source
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 +5 more
doaj +1 more source