Ask about this productRelated genes to: CYP11B1 Blocking Peptide
- Gene:
- CYP11B1 NIH gene
- Name:
- cytochrome P450 family 11 subfamily B member 1
- Previous symbol:
- CYP11B
- Synonyms:
- P450C11, FHI, CPN1
- Chromosome:
- 8q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2016-10-05
Related products to: CYP11B1 Blocking Peptide
Related articles to: CYP11B1 Blocking Peptide
- Complete androgen insensitivity syndrome (CAIS) is a variation in sex characteristics that occurs due to a pathogenic loss-of-function variant in the androgen receptor gene. CAIS classically presents as an individual with 46,XY karyotype, apparent female external genitalia, a blind-ending vaginal pouch, internal testes, and absence of Müllerian structures; however, there are case reports describing Müllerian remnants in CAIS with unclear underlying pathophysiology. We describe a case of a 46,XY infant with CAIS and a uterus on postnatal imaging. Genetic testing revealed a hemizygous pathogenic androgen receptor () gene variant and 2 variants of unknown significance in and , which offer theoretical mechanisms for persistent Müllerian structures. Management included multidisciplinary care with counseling around sex assignment and anticipatory guidance regarding gonadal surveillance, gender identity, and future puberty. This case contributes to the limited literature on atypical phenotypes in CAIS demonstrating the need for further research into the underlying genetic and pathophysiologic mechanisms of this condition. - Source: PubMed
Publication date: 2026/09/17
Vidmar Kimberly KJewell Tess IKeppler-Noreuil Kim M - A retrospective analysis was conducted on the clinical data of two patients with genetically confirmed 11β-hydroxylase deficiency (11β-OHD) who were admitted to the Department of Endocrinology at the First Medical Center of Chinese PLA General Hospital between January 2023 and June 2025, and who had undergone adrenalectomy for adrenal masses prior to a definitive diagnosis. The two patients included one female (Patient 1, 37 years old) and one male (Patient 2, 22 years old); both presented with adrenal masses as a major manifestation accompanied by hypertension. Patient 1 had a history of childhood-onset clitoromegaly, primary amenorrhea, and bilateral adrenal adenomatoid hyperplasia, and underwent right adrenalectomy before the diagnosis was confirmed, with no improvement in hypertension postoperatively. Patient 2 presented with precocious puberty, hypertension, and hypokalemia, and underwent resection of a left adrenal mass, after which hypertension remained poorly controlled. Endocrine hormonal evaluation in both patients was suggestive of 11β-OHD. Genetic testing confirmed that Patient 1 carried compound heterozygous mutations in the CYP11B1 gene, namely c.1361G>A (p.Arg454His) and c.1120C>T (p.Arg374Trp), while Patient 2 carried a homozygous mutation, c.1360C>T (p.Arg454Cys). Following glucocorticoid therapy, blood pressure was well controlled in both patients; the residual left adrenal mass in Patient 1 showed no significant progression, and in Patient 2, hypokalemia was corrected and final adult height reached the genetic target height. For patients with adrenal masses accompanied by hypertension, hypokalemia, low renin and low aldosterone levels, precocious puberty, or female virilization, comprehensive endocrine hormonal evaluation and genetic testing should be performed to establish a definitive diagnosis before any treatment decisions are made, in order to avoid unnecessary adrenal surgery. - Source: PubMed
Wang Y JYao X YWang X LLyu Z H - 11β-hydroxylase deficiency (11β-OHD) is the second most common form of congenital adrenal hyperplasia (CAH), characterized by androgen excess, mineralocorticoid-driven hypertension, and hypokalemia. We report a 35-year-old individual with a 46,XX karyotype, registered and raised male since birth, in whom a disorder of sexual development (DSD) had remained unrecognized. Abdominal MRI performed for nonspecific abdominal pain revealed bilateral giant adrenal myelolipomas on macronodular adrenal hyperplasia and a retro-vesical uterus-like structure. On examination, external genitalia showed complete masculinization (Prader stage 5); dedicated pelvic MRI further demonstrated a markedly enlarged uterus with diffuse adenomyosis, in a patient who had never menstruated. Hormonal findings were consistent with classical 11β-OHD (DOC ∼140× the upper limit of normal, ACTH 12× normal, elevated adrenal androgens, suppressed gonadotropins, and absent AMH); CYP11B1 genetic testing, which would provide molecular confirmation, was not available. Glucocorticoid replacement normalized potassium and improved blood pressure, with ongoing multidisciplinary follow-up. This case highlights the radiological phenotype of neglected CAH in adulthood and the role of imaging in characterizing complex DSD when clinical signs alone are insufficient to reach a diagnostic conclusion. - Source: PubMed
Publication date: 2026/08/27
Abouchiba SalmaEnnejjari NahlaOuazzani HajarChaouche IsmailAkammar AmalHaloua MeriemAlami BadrLamrani Moulay Youssef AlaouiBoubbou MeryemMaaroufi MustaphaEl Bouardi Nizar - The adrenal cortex shows sexual dimorphism in structure and function. We analysed adrenal glands from 7-week-old male and female BALB/c mice using Visium HD with Cellpose 3 segmentation, comprising 236,077 cells across eleven populations, including four cortical zones. Using curated marker-gene-based zonal annotation, we focused on steroidogenic enzymes and hormone receptors, complementing our companion study based on the same primary dataset. The X-zone was nearly absent in males but prominent in females. Females showed higher Hsd3b1 expression across cortical zones and higher Cyp11b1 expression in outer cortical compartments. The strongest sex difference involved Srd5a2, with markedly higher expression in male zona fasciculata (inner: 77.1% vs. 28.9%), independently supported by RNAscope and immunohistochemistry. Mc2r and Mrap showed discordant spatial distributions, with limited co-expression, suggesting potential MC2R-independent MRAP roles. Agtr1a dominated angiotensin II receptor expression in zona glomerulosa without major sex differences, providing a zone-resolved reference for adrenal sexual dimorphism. - Source: PubMed
Publication date: 2026/09/04
Blatkiewicz MałgorzataHryhorowicz SzymonSzyszka MartaSuszynska-Zajczyk JoannaOlechnowicz AnnaPorzionato AndreaMalendowicz Ludwik KRucinski Marcin - A six-gene panel involved in androgen production, uptake, and conversion (APUC-6: , , , , , ) may define distinct clinical outcomes in metastatic prostate cancer. This study evaluated the prognostic and predictive value of APUC-6 expression in metastatic castration-sensitive prostate cancer (mCSPC). - Source: PubMed
Publication date: 2026/08/21
Shi XiaoleiShetty Amol CWang JareySong YangSutera Philip ADeek Matthew PPatel Krishnan RMadan Ravi ATang ChadProudfoot JamesDavicioni ElaiHussain ArifNguyen PaulSweeney ChristopherBoytim EllaLacuna Kristine PRyan Charles JAntonarakis Emmanuel STran Phuoc THwang Justin