Background. Our knowledge on long-term outcome in CAH remains incomplete. Methods. In a prospective study (33 CAH patients, 33 age-matched controls), reproductive outcomes, self-rating of genital appearance and function, and sexuality were correlated to degree of initial virilisation, genotype, and surgery. Results. Patients had larger median clitoral lengths (10.0 mm [range 2-30] versus 3.5 [2-8], P < .001), shorter vaginal length (121 mm [100-155] versus 128 [112-153], P = .12), lower uterine volumes (29.1 ml [7.5-56.7] versus 47.4 [15.9-177.5], P = .009), and higher ovarian volumes (4.4 ml [1.3-10.8] versus 2.8 [0.6-10.8], P = .09) than controls. Satisfaction with genital appearance was lower and negatively correlated to degree of initial virilisation (r(s) = ≤-0.39, P ≤ .05). More patients had never had intercourse (P = .001), and age at 1st intercourse was higher (18 yrs versus 16 yrs, P = .02). Conclusion. Despite overall acceptable cosmetic results, reproductive outcomes were suboptimal, supporting that multidisciplinary teams should be involved in adult follow up of CAH patients.
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http://dx.doi.org/10.1155/2010/784297 | DOI Listing |
Arch Pediatr
January 2025
Department of Pediatrics, Hedi Chaker Hospital, Sfax, Tunisia; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
Background: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. Congenital adrenal hyperplasia (CAH) is the most common cause of PAI in children. To date, numerous non-CAH causes have been identified through genetic analysis but they remain poorly characterized.
View Article and Find Full Text PDFSteroids
January 2025
Department of Endocrinology, Sir Run Run Hospital, Nanjing Medical University, Nanjing, Jiangsu, China. Electronic address:
Background: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), caused by mutations in the CYP17A1 gene. It typically manifests clinically as variable degree of hypertension, hypokalemia, and disorders of sexual development (DSD), which can include abnormal sexual differentiation in males and sexual infantilism in females. Over 100 mutations in CYP17A1 have been identified, with most cases involving missense mutations or small deletions.
View Article and Find Full Text PDFEur J Cancer
January 2025
National Center for Cancer Immune Therapy, Department of Oncology, Copenhagen University Hospital, Herlev, Denmark. Electronic address:
Introduction: Advances in modern therapies have improved outcomes for patients with melanoma brain metastases (MBM), though prognosis remains poor. The optimal treatment strategy for patients who do not meet clinical trial inclusion criteria is unclear.
Methods: This study included all patients with MBM diagnosed in Denmark between 2015 and 2022, identified through the Danish Metastatic Melanoma Database (DAMMED) and local surgical and radiotherapy records.
Expert Rev Endocrinol Metab
January 2025
Neurocrine Biosciences, Inc, San Diego, CA, USA.
Introduction: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a rare genetic condition characterized by cortisol deficiency and excess adrenal androgens. CAH treatment is a lifelong balancing act between the need to reduce excess androgens, typically with supraphysiologic glucocorticoid (GC) doses, and concerns about potentially serious GC-related adverse events. Tradeoffs between the consequences of excess androgens versus GCs must be constantly reassessed throughout each patient's lifetime, based on current clinical needs and treatment goals.
View Article and Find Full Text PDFSudan J Paediatr
January 2024
Department of Paediatrics, South West Acute Hospital, Enniskillen, UK.
Pseudohypoaldosteronism (PHA) is a rare disorder that mimics congenital adrenal hyperplasia (CAH). Renal type A1A of the disorder has a known gene mutation (NR3C2) and parents may be asymptomatic despite biochemical abnormalities. Meticulous interpretation of hormonal and biochemical data, and early liaison with endocrinology and renal teams are key in diagnosis.
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