Results 111 to 120 of about 72,115 (280)
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 +38 more
core +1 more source
Congenital lipoid adrenal hyperplasia [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and
openaire +3 more sources
Immunological Reviews, Volume 338, Issue 1, March 2026.ABSTRACT Sex plays a key role in shaping both anti‐cancer immunity and autoimmunity. Biological factors underlying sexual dimorphism have now been identified in multiple aspects of anti‐cancer immunity and autoimmunity. These factors include sex differences in hormone levels, chromosome complement, and expression of the long non‐coding RNA XIST.
Christian G. Bustillos +4 more
wiley +1 more source
Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene [PDF]
, 2014 Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90–95% of CAH cases.
Bruque, Carlos David +7 more
core +3 more sources
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
Does an Analysis of the Pulsatile Secretion Pattern of Adrenocorticotropin and Cortisol Predict the Result of Transsphenoidal Surgery in Cushing’s Disease. [PDF]
, 1993 The endocrinological, surgical, and histological findings of patients with ACTH-dependent Cushing's disease were correlated with the pulsatile secretion pattern of ACTH and cortisol and the outcome after transsphenoidal pituitary surgery.
Brabant, Georg +5 more
core +1 more source
Health Science Reports, Volume 9, Issue 2, February 2026.ABSTRACT Background and Aims Acne vulgaris is a frequent skin disorder, affecting a large part of the population worldwide, and strongly influencing not only the physical but also the mental aspects of health. The choice of therapy for acne vulgaris is a very difficult one because the multifactorial causality of the disease and interindividual ...
Mobina Tajdari +5 more
wiley +1 more source
Clinical Case ReportsKey Clinical Message In previous reports, hypothyroidism, hypopituitrism, and hypogonadism were common endocrine causes of SCFE, but this is the first time that congenital adrenal hyperplasia has been observed.
Yi‐Fan Huang +2 more
doaj +1 more source
7 PRENATAL TREATMENT IN CONGENITAL ADRENAL HYPERPLASIA (CAH): FIVE GASES EXPERIENCE IN TWO YEARS [PDF]
, 1994 Gonzalo Garcia Guerra +6 more
openalex +1 more source
Congenital adrenal hyperplasia: Diagnostic advances [PDF]
, 2018 Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.
Biason-Lauber, Anna, Torresani, T.
core +1 more source