Results 41 to 50 of about 119,945 (311)

Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care [PDF]

open access: yesKorean Journal of Pediatrics, 2017
Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into ...
Jin-Ho Choi, Han-Wook Yoo
doaj   +1 more source

The "backdoor pathway" of androgen synthesis in human male sexual development. [PDF]

open access: yes, 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

Polymorphism of the tumor necrosis factor beta gene in systemic lupus erythematosus [PDF]

open access: yes, 1993
We investigated the Nco I restriction fragment length polymorphism (RFLP) of the tumor necrosis factor beta (TNFB) gene in 173 patients with systemic lupus erythematosus (SLE), 192 unrelated healthy controls, and eleven panel families, all of German ...
Albert, E. D.   +6 more
core   +1 more source

Compliance Issues in Managing 21 Hydroxylase Deficiency and their Short/Long-Term Consequences

open access: yesEuropean Journal of Case Reports in Internal Medicine, 2021
Objective: To report a case of untreated classic 21 hydroxylase (OH) deficiency congenital adrenal hyperplasia (CAH) in a transgender patient resulting in pulmonary embolisms (PEs) and bilateral adrenal masses.
Jack Lin   +3 more
doaj   +1 more source

Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY

open access: yesFrontiers in Genetics, 2022
Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency,
Sophia Q. Song   +12 more
doaj   +1 more source

Macrophages in endocrine glands, with emphasis on pancreatic islets [PDF]

open access: yes, 2016
We review here the macrophages found in endocrine tissues, placing emphasis on those residing in the islets of Langerhans of the pancreas. The islets represent the endocrine organ where macrophages have been examined in great detail and where our own ...
Unanue, Emil R
core   +2 more sources

Efficacy and Safety Analysis of Roxarestat in Regulating Renal Anemia in Patients on Maintenance Hemodialysis

open access: yesTherapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Objective To compare the efficacy and safety of roxarestat versus recombinant human erythropoietin (rhEPO) in the management of renal anemia in patients undergoing maintenance hemodialysis. Methods This was a prospective, open‐label, randomized controlled trial.
Lingling Chen, Junjie Zhu, Qiaonan Ge
wiley   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

open access: yesFEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Absence of uterus and presence of verumontanum in a 46 XX patient with Congenital adrenal hyperplasia reared as male: A case report with literature review

open access: yesUrology Case Reports
Congenital adrenal hyperplasia (CAH) is an inherited disorder causing adrenal hormone imbalance and organ overgrowth, leading to phenotype-genotype mismatches.
Rawa Bapir   +9 more
doaj   +1 more source

Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2016
The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands. Approximately
Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
doaj   +1 more source

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