Results 91 to 100 of about 32,087 (214)

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

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Louise A. Metherell, Danielle Naville, George Halaby, Martine Begeot, Angela Huebner, Gudrun Nürnberg, Peter Nürnberg, Jane Green, Jeremy W. Tomlinson, Nils P. Krone, Lin Lin, Michael Racine, Dan M. Berney, John C. Achermann, Wiebke Arlt, Adrian J. L. Clark, Clark, Tsigos, Cooray, Metherell, Génin, Fujieda, Stocco, Bhangoo, Qiu, Chen, Nakae, Korsch, Flück, Bose, Fujieda, Okuyama, Baker, O'Riordan, Miller, Miller, Aya, Lin, Lin   +38 more
core   +1 more source

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

MedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source

Intradialytic hypertriglyceridemia can be associated with priapism: A case report of congenital adrenal hyperplasia with kidney failure

Український Журнал Нефрології та Діалізу
Data on kidney failure in patients with congenital adrenal hyperplasia are rare. To the best of our knowledge, there is no data on how to manage patients with congenital adrenal hyperplasia during hemodialysis sessions.
Nabadwip Pathak, Sunil Kumar Nanada, Moses Ambriose   +2 more
doaj   +1 more source

The Iowa Perinatal Letter, April-May-June 2008, Vol. 29, no. 2 [PDF]

, 2008
This newsletter from The Department of Public Health about perinatal health care and ...

core  

Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort [PDF]

, 2013
Context: In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a strong genotype-phenotype correlation exists in childhood. However, similar data in adults are lacking.Objective: The objective of the study was to test whether the ...
, Arlt, Wiebke, Carroll, Paul V., Conway, Gerry S., Doherty, Emma J., Hahner, Stefanie, Han, Thang S., Hodson, James, Krone, Nils, MacDonald, Fiona, Parajes, Silvia, Rose, Ian T., Ross, Richard J., Stimson, Roland H., Walker, Brian R., Wild, Sarah H., Willis, Debbie S.   +16 more
core   +2 more sources

The Digital Native Paradox: A Framework for Critical Appraisal of Generative AI in Paediatric Medical Education

Journal of Paediatrics and Child Health, EarlyView.
Richard G. McGee
wiley   +1 more source

Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder

Case Reports in Endocrinology
Summary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital ...
Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G. de los Santos Aguilar, Luis David Sol Oliva   +5 more
doaj   +1 more source

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

Thyroxine-binding globulin: investigation of microheterogeneity [PDF]

, 1981
Preparations of T4-binding globulin (TBG) from human serum was performed using only two affinity chromatography steps. Purity of the protein was demonstrated by a single band in overloaded disc and sodium dodecyl sulfate electrophoresis, equimolar ...
Gärtner, Roland, Henze, R., Horn, K., Pickardt, C. R., Scriba, Peter Christian   +4 more
core   +1 more source