25 citations
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September 2015 in “Clinical Endocrinology” This study found that diagnosing nonclassic congenital adrenal hyperplasia in women based solely on serum 17OHP measurements can lead to false positives, suggesting the need for urinary steroid profiles and genetic testing for confirmation.
1 citations
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May 2023 in “Journal of neuroendocrinology” This review of DAVID syndrome cases found that ACTH deficiency often preceded by sinus infections or alopecia is linked to specific NFKB2 gene mutations, highlighting the importance of early diagnosis to prevent complications.
April 2020 in “BMC endocrine disorders” This case report describes a 65-year-old woman with childhood-onset growth hormone deficiency who developed panhypopituitarism, including late-onset secondary hypoadrenocorticism, affecting her respiratory and renal function.
June 2026 in “Quality in Sport” This study reviewed the current understanding of congenital adrenal hyperplasia from 21-hydroxylase deficiency, highlighting the impact of universal newborn screening in reducing mortality and discussing ongoing treatment challenges and future therapeutic prospects.
3 citations
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May 1990 in “Journal of Steroid Biochemistry” This study found that diagnosing non-classical 3 beta-hydroxysteroid dehydrogenase deficiency solely based on elevated serum or urinary 5-ene-steroids may not be reliable.