New work from Ron Crystal's lab on treating hereditary adrenal disorders

(Mary Ann Liebert, Inc./Genetic Engineering News) A new study has definitively shown that a single treatment with gene therapy using adeno-associated viral (AAV) vector gene delivery to replace the defective gene responsible for congenital adrenal hyperplasia (CAH) will only temporarily alleviate the hereditary disorder.
Source: EurekAlert! - Biology - Category: Biology Source Type: news

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ccedil; N, Kandemir N Abstract BACKGROUND AND OBJECTIVES: Congenital adrenal hyperplasia (CAH) is characterized by androgen excess which should be treated with life-long glucocorticoid therapy, thus can affect bone mineralization. We aimed to evaluate the bone mineral density (BMD) and determine the factors affecting bone mineralization in patients with CAH. METHOD: This prospective case-control study was conducted in children, adolescents and young adults with classical 21-hydroxylase CAH, and age-, sex-, and pubertal stage matched healthy controls. Lumbar1-4 BMD was determined by dual-energy X-ray absorptio...
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Tags: Turk J Pediatr Source Type: research
Congenital Adrenal Hyperplasia (CAH) is the commonest cause of disorders of sex development (DSD) in children. The timing of surgery, early versus late, is a subject of current debate. We hypothesize that surgery for congenital adrenal hyperplasia after age two results in a worse outcome than procedures performed earlier in the neonatal period."
Source: Journal of Pediatric Urology - Category: Urology & Nephrology Authors: Source Type: research
AbstractPurposeWe compared the sexual function in women with classic forms of congenital adrenal hyperplasia (CAH) and polycystic ovary syndrome (PCOS) to find if the cause of androgen excess determines sexual functioning.MethodsHundred and four women (21 with CAH, 63 with PCOS and 20 healthy controls) aged 18 –40 years were included into the study. All participants completed a questionnaire regarding their sociodemographic background and underwent anthropometric and basic biochemical measurements. Plasma levels of total testosterone, androstenedione, and 17-hydroxyprogesterone were measured with immun oassay. T...
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research
Congenital Adrenal Hyperplasia (CAH) is the most common reason for undifferentiated genital appearance in new-borns. Psychosexual outcome in women with CAH has been rarely evaluated, but it seems to be one of the most important factors determining the indications for the surgical treatment of CAH.
Source: Journal of Pediatric Urology - Category: Urology & Nephrology Authors: Source Type: research
Conclusions: Early feminizing genitoplasty in girls with congenital adrenal hyperplasia, irrespective of virilization severity, gives satisfactory cosmetic results and is characterized by low and acceptable surgical risk. Nevertheless, the most important determinant of the effectiveness of such management would be future patients’ satisfaction.
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Communication Source Type: research
To explore how women with congenital adrenal hyperplasia (CAH) describe their experiences of gender role behavior, psychosexual development and intimate relationships. CAH results in increased androgen exposure in affected females and is the most common reason for unclear sex at birth. Women with CAH have been studied to find answers to the role of androgens in psychosexual development. Nevertheless, factors that may account for the variability of outcomes in women with CAH are unclear.
Source: Journal of Pediatric and Adolescent Gynecology - Category: OBGYN Authors: Source Type: research
Publication date: Available online 17 May 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Leif Karlsson, Michela Barbaro, Ewoud Ewing, David Gomez-Cabrero, Svetlana Lajic
Source: The Journal of Steroid Biochemistry and Molecular Biology - Category: Biochemistry Source Type: research
Conclusion: ACAT1 inhibitors [11C]ATR-101 and [18F]ATR-F were synthesized. Biodistribution studies showed good adrenal uptake for both agents. [11C]ATR-101 when administered to (healthy) C57BL6 and (atherosclerotic) ApoE-/- mice could easily distinguish the diseased animal from the healthy control. Future studies will use PET/CT for additional structural information, and [18F]ATR-F will be used in longer imaging studies. References: (1) Yu, X.-H.; Fu, Y.-C.; Zhang, D.-W.; Yin, K.; Tang, C.-K. Foam Cells in Atherosclerosis. Clin. Chim. Acta 2013, 424, 245-252.(2) Trivedi, B. K.; Purchase, T. S.; Holmes, A.; Augelli-szafran,...
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Preclinical Probes for Cardiovascular, Endocrine & amp; Other Source Type: research
CONCLUSIONS: Our report suggests the need for screening of liver lesions in males affected by this syndrome. PMID: 32373953 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
The combination of three mutations in exon 6 of CYP21A2 (p.I236N, p.V237E, and p.M239K), which is sometimes referred to as the E6 cluster, has been identified as an underlying cause of 21-hydroxylase deficiency (21-OHD).1 Some patients with 21-OHD have also been identified as having an atypical E6 cluster containing p.I236K, p.V237E, and p.M239K. This genotype is rare, so the associated congenital adrenal hyperplasia phenotype has not been well described. Here, we report a case having 21-OHD caused by a combination of the p.I172N mutation and an atypical E6 cluster.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Letter to the Editor Source Type: research
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