25 citations
,
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
,
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
,
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.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.
January 2023 in “Endocrine Journal” This review discusses the challenges in optimizing glucocorticoid treatment for classic 21-hydroxylase deficiency, emphasizing individualized care and the need for comprehensive management, but presents no new findings.
May 2021 in “Journal of the Endocrine Society” This report presents a rare case of suspected 3β HSD deficiency in an adult female with symptoms like male pattern hair loss and low testosterone, suggesting a non-classical presentation.
October 2025 in “Medicine” This case report presents a patient with idiopathic isolated ACTH deficiency and testicular germ cell tumor, with alopecia areata as an initial symptom, suggesting a potential link between these conditions.
1 citations
,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
11 citations
,
January 2020 in “World Journal of Traditional Chinese Medicine” This study used a glucocorticoid-injection model to mimic kidney-yang deficiency syndrome and reported symptoms related to hormonal imbalances in the hypothalamic-pituitary-target gland axes.
98 citations
,
March 2019 in “Frontiers in immunology” This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.
1 citations
,
September 2002 in “European Journal of Endocrinology” This case study reports the clinical features of triple H syndrome in a 25-year-old man, including ACTH deficiency, alopecia universalis, and anterograde amnesia, which were improved with hydrocortisone treatment.
1 citations
,
July 2024 in “International Journal of Innovative Science and Research Technology (IJISRT)” In this case report, a 36-year-old woman was diagnosed with iatrogenic Cushing Syndrome caused by topical steroid use, leading to skin ulcers, diabetes, and anemia. Her condition improved after discontinuing the steroids and receiving appropriate treatment.
1 citations
,
August 2015 in “PubMed” This case study reports an Asian female with congenital adrenal hyperplasia presenting atypically with polymenorrhagia, who showed improvement with oral dexamethasone, despite no change in hirsutism or clitoromegaly.
February 2024 in “Biomedicines” This review examines the hormonal causes of hair loss, noting how androgen excess can lead to follicle miniaturization and linking estrogen deficiency and thyroid dysfunction to common alopecia types. It further discusses hormonal treatments such as finasteride, dutasteride, and spironolactone.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
55 citations
,
August 2008 in “Reviews in endocrine and metabolic disorders” This review discusses clinical, hormonal, and genetic aspects of nonclassic adrenal hyperplasia and reports no new findings; the condition is highlighted as a potential cause of premature adrenarche and other symptoms in young people.
49 citations
,
January 2010 in “International Journal of Pediatric Endocrinology” This review covers the pathophysiology, diagnosis, and treatment of nonclassic congenital adrenal hyperplasia due to P450c21, but it reports no new clinical results.
46 citations
,
July 1988 in “Journal of The American Academy of Dermatology” This review discusses various skin lesions associated with endocrinologic disorders such as Cushing's syndrome and adrenal insufficiency, and it reports no new clinical results.
42 citations
,
April 2013 in “Steroids” This review discusses the pathophysiology, molecular genetics, and management of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, with no new clinical findings reported.
26 citations
,
March 2009 in “Dermato-endocrinology” This review discusses the evaluation, clinical presentation, and cutaneous manifestations of congenital adrenal hyperplasia, focusing on differential diagnosis challenges with polycystic ovary syndrome, and reports no new clinical findings.
26 citations
,
January 1982 in “Hormone Research” This study found that plasma androgen levels tend to be lower than normal in patients with multiple pituitary hormone deficiencies, particularly those with ACTH deficiencies, and that human growth hormone treatment does not affect adrenal androgen secretion.
19 citations
,
August 1999 in “European journal of endocrinology” This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.
16 citations
,
September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” This review discusses the challenges in diagnosing different causes of adult androgen excess and outlines current screening and management strategies but reports no new findings.
1 citations
,
January 2016 in “Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma” This article discusses congenital adrenal hyperplasia due to 21 hydroxylase deficiency as a cause of ambiguous genitals in 46XX individuals and reports no new research findings.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
October 2025 in “Journal of the Endocrine Society” This case report describes a 36-year-old female patient with panhypopituitarism, experiencing severe adrenal insufficiency and thyroid hormone deficiency, which led to electrolyte imbalance, QT interval prolongation, and ventricular tachycardia; treatment stabilized her condition, underscoring the importance of hormonal evaluation in arrhythmia assessment.
February 2025 in “La Pediatria Medica e Chirurgica” In this case study, a 12-year-old boy with Cushing's Disease experienced a complex diagnostic journey; ultimately, a left-side ACTH-secreting microadenoma was identified and treated with gamma knife therapy, normalizing hypercortisolism but resulting in growth hormone deficiency.