CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1)

MACS represents a metabolic continuum between NFAT and adrenal CS. Increased activity of the adrenal enzyme 11β-hydroxylase (CYP11B1), which catalyses key steps in cortisol and 11-oxygenated androgen biosynthesis, may contribute to steroid excess and cardiometabolic morbidity in MACS. These findings suggest that CYP11B1 may be a potential therapeutic target to ameliorate metabolic dysfunction in MACS.

ZUC-1 spheroids exhibited furthermore an intra-spheroidal heterogenous mix of canonical and non-canonical Wnt pathway activation. We conclude that due to its origin and unique geno- and phenotypes, ZUC-1 represents an intriguing model to further gain basic understanding of adrenal function,the pathogenesis of ACC, but it might be also of interest in context of CAH and PCOS.

The human adrenal gland is crucial for the synthesis of steroid hormones (glucocorticoids, mineralocorticoids, and androgens) and amino acid-derived hormones (epinephrine and norepinephrine)...The risk of these harmful effects is higher during development. Pregnant women, babies, children, and adolescents are especially vulnerable, and should therefore be kept away from these chemicals.

Conversely, co-overexpression of FOS and JUN suppressed key steroidogenic genes (StAR, CYP11B1, CYP11B2), reduced aldosterone and cortisol secretion, and increased reactive oxygen species accumulation. Together, this work demonstrates that FOS and JUN may function in coordinating the redox-steroidogenesis axis, linking molecular changes in the adjacent cortex to tumor function and microenvironmental remodeling.

Our study provides a comprehensive single-cell atlas of APA, uncovering key tumorigenic mechanisms and identifying potential biomarkers (e.g., CAPS, VWF, UPK3B) and therapeutic targets, including mTOR and Hedgehog/Wnt pathways. These findings advance the genomic understanding of adrenal tumors and support precision medicine development.

Treatment was initiated with hydrocortisone and spironolactone, leading to improved blood pressure control and reduced testicular size...Dexamethasone offers superior adrenocorticotropic hormone (ACTH) suppression but carries risks of cardiovascular morbidity and reduced bone density...This case highlights the importance of long-term follow-up in patients with 11β‑OHD, as noncompliance may predispose to complications such as hypertension and TARTs. Tailored therapy with glucocorticoids and antihypertensives can improve outcomes, though fertility preservation in the presence of advanced TARTs remains a clinical challenge.

She received preoperative alpha blockade, a salt-liberal diet and fluid repletion for her pheochromocytoma, as well as spironolactone for blood pressure control of her primary aldosteronism before undergoing laparoscopic right adrenalectomy...Postoperatively, her catecholamine and cortisol excess resolved, while there was partial improvement in her aldosterone excess, consistent with residual primary aldosteronism. In cases of multiple concurrent adrenal pathologies, comprehensive biochemical and immunohistochemical analyses are essential for establishing a definitive diagnosis.

Following a 1-mg dexamethasone suppression test, her serum cortisol level measured 9.0 μg/dL, and the diurnal rhythm of cortisol secretion was absent...The AVS interpretation was misleading owing to cortisol imbalance between the adrenal veins due to cortisol producing adenoma. Treatment strategies for patients with PA and concurrent MACS should encompass a comprehensive assessment of AVS and CT findings.

In patients with unilateral primary aldosteronism, those carrying KCNJ5 somatic mutations exhibit characteristics such as younger age and a higher proportion of females compared to wild-type patients, along with significantly better surgical outcomes. Moreover, among patients with KCNJ5 mutations, those whose pathological subtype shows pure CYP11B2 expression demonstrate a more pronounced reduction in postoperative antihypertensive defined daily dose than those with co-expression of CYP11B1/CYP11B2.

We reported a family of PBMAH with novel ARMC5 pathogenic variant. The index patient exhibited heterogeneous adrenal nodules with distinct Hu values and CYP11B1 mRNA levels.

Additionally, we developed a transformer-based model (MolBART) to predict all end points simultaneously and validated this performance. Combined, these models may offer a rapid and scalable system for assessing chemical impacts on steroidogenesis, supporting chemical risk assessment, product stewardship, and regulatory decision-making.

Lastly, peripheral glucocorticoid and mineralocorticoid pathway disorders due to germline mutations in HSD-11B2, codifying the enzyme 11β-dehydrogenase type 2, NR3C1 and NR3C2 genes codifying the nuclear receptor subfamily 3 group C members 1 and 2 may also be responsible. A systematic diagnostic approach based on published guidelines is still lacking, and diagnostic suspicions with referral for gene sequencing need to be identified. This review discusses the known causes of endocrine hypertension in children and adolescents, with an emphasis on prevalence, clinical presentation, genetic predisposition and therapeutic strategies.