Editorial: Congenital Adrenal Hyperplasia, Unresolved Issues and Implications on Clinical Management
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.
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.
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
CONCLUSIONS: Our report suggests the need for screening of liver lesions in males affected by this syndrome. PMID: 32373953 [PubMed - in process]
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.
Conclusions: A novel heterozygous nonsense mutation in the STS gene and a known heterozygous missense variant in the BCRP gene were found. The heterozygous nonsense mutation in the STS gene is not supposed to be responsible for STS deficiency. The BCRP variant is associated with reduced efflux transport activity only in its homozygous state. The combination of the two heterozygous mutations could possibly explain the observed high levels of DHEAS and other sulfated steroids.
AbstractDespite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the genotype/phenotype correlation are still unexplained. Some, but not all, discordant phenotypes caused by mutations with known enzyme activity have been explained by in silico structural changes in the 21-hydroxylase protein. The incidence of P30L mutation varies in different populations and is most frequently found in several Central and Southeast European countries as well as Mexico. Patients carrying P30L mutation present predominant...
To explore the impact of Congenital Adrenal Hyperplasia (CAH) on body image in Malaysian females with CAH and to understand the perspectives of these young women and their parents towards Feminizing Genitoplasty (FG)
Purpose of review Data on the long-term cardio-metabolic outcomes classical congenital adrenal hyperplasia (CAH) patients have been published with controversial results. Conventional treatment recommends hydrocortisone during childhood; and short and/or long-acting glucocorticoid during adulthood, associated or not with mineralocorticoid, in an attempt to simulate normal cortisol secretion and to normalize androgen excess. However, the balance between glucocorticoid over or undertreatment is very challenging, and patients frequently oscillate between hypercortisolism or hyperandrogenism. Considering these data, we review...
ConclusionStrip hybridization assay is a rapid screening tool for the diagnosis of CAH. The authors hypothesized an easy and rapid scheme for clinical interpretation of the strip results to gain the highest value of the strip in diagnosis.