June 2025 in “Journal of Endocrinological Investigation” This review identifies and discusses various endocrine-related causes of hypertension in children and adolescents, emphasizing the role of genetic predispositions and highlighting the need for systematic diagnostic guidelines and genetic sequencing referrals to improve diagnosis and treatment strategies.
10 citations
,
December 1992 in “PubMed” This report of three cases found that diagnosing hypercortisolism during pregnancy can be challenging, but early detection using unbound steroid levels and MRI could prevent severe complications.
7 citations
,
January 2019 in “Australasian Journal of Dermatology” In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.
83 citations
,
July 1993 in “Journal of the American Veterinary Medical Association” This study found that surgical removal of adrenal glands resolved clinical signs of adrenocortical tumors and hyperplasias in ferrets, but cortisol levels were not excessively high.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.