Congenital Adrenal Hyperplasia Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Clinical Presentation and Genetic Analysis of Neonatal 11 β-Hydroxylase Deficiency Induced by a Chimeric < em > CYP11B2/CYP11B1 < /em > Gene
J Clin Res Pediatr Endocrinol. 2023 Dec 13. doi: 10.4274/jcrpe.galenos.2023.2023-9-13. Online ahead of print.ABSTRACTIn terms of prevalence, 11β-hydroxylase deficiency (11β-OHD), a common form of congenital adrenal hyperplasia, closely follows 21-hydroxylase deficiency. 11β-OHD has been attributed to diminished enzymatic activity owing to CYP11B1 gene variants, mainly encompassing single nucleotide variations and insertions-deletions. The involvement of chimeric CYP11B2/CYP11B1 genes in 11β-OHD has been rarely reported. We conducted a genetic investigation on a male infant with generalized pigmentation and abnormal ste...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 13, 2023 Category: Endocrinology Authors: Wenjuan Cai Dan Yu Jian Gao Qian Deng Huihui Lin Yuqing Chen Source Type: research

Dexamethasone for post-operative nausea and vomiting prophylaxis in cesarean delivery and a delayed diagnosis of neonatal congenital adrenal hyperplasia
Classical congenital adrenal hyperplasia (CAH) occurs in 1 in 10 000-20 000 births, with approximately 95% of the cases due to 21-hydroxylase deficiency.1 Congenital adrenal hyperplasia results in decreased glucocorticoid and mineralocorticoid production with excess adrenal sex steroids. Untreated, it can result in salt wasting, failure to thrive, and potentially fatal adrenal crisis. The 46,XX infants present with virilized genitalia, ranging from clitoromegaly and/or labial fusion to development of a full phallus, thus raising suspicion for CAH upon initial examination. (Source: International Journal of Obstetric Anesthesia)
Source: International Journal of Obstetric Anesthesia - December 12, 2023 Category: Anesthesiology Authors: A. Waselewski Tags: Case Report Source Type: research

Dexamethasone for postoperative nausea and vomiting prophylaxis in cesarean delivery and a delayed diagnosis of neonatal congenital adrenal hyperplasia
Classical congenital adrenal hyperplasia (CAH) occurs in 1 in 10 000 –20 000 births, with approximately 95% of the cases due to 21-hydroxylase deficiency.1 Congenital adrenal hyperplasia results in decreased glucocorticoid and mineralocorticoid production with excess adrenal sex steroids. Untreated, it can result in salt wasting, failure to thrive, and potentially fatal adrenal crisis. The 46,XX infants present with virilized genitalia, ranging from clitoromegaly and/or labial fusion to development of a full phallus, thus raising suspicion for CAH upon initial examination. (Source: International Journal of Obstetric Anesthesia)
Source: International Journal of Obstetric Anesthesia - December 12, 2023 Category: Anesthesiology Authors: A.C. Waselewski, T.T. Klumpner, J.A. Kountanis, E.S. Sandberg, D.E. Shumer Tags: Case Report Source Type: research

Pregnancy management of IVF-ET pregnancies in a patient with classical 21-hydroxylase deficiency: a case report and review of the literature
21-hydroxylase deficiency (21-OHD) is one of the most common subtypes of congenital adrenal hyperplasia (CAH). It is caused by mutations in CYP21A2, the gene encoding adrenal steroid 21-hydroxylase (P450c21)[1]. According to the genotype-clinical phenotype relationship, the degree of aldosterone and cortisol deficiency, and the severity of hyperandrogenism, 21-OHD is divided into two main subtypes: 1) classical 21-OHD, based on the degree of aldosterone deficiency, which is subdivided into salt wasting (SW, about 75%) and simple virilizing (SV, about 25%); 2) non-classical 21-OHD (NCCAH)[1,2]. (Source: European Journal of ...
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - December 6, 2023 Category: OBGYN Authors: Junxin Yu, Sha Lu, Lingya Fang, Nisile Kakongoma, Wensheng Hu Tags: Review article Source Type: research

Gonadotropin-Releasing Hormone Agonists and Bone Density in Congenital Adrenal Hyperplasia: A Call for Further Research
J Clin Endocrinol Metab. 2023 Nov 24:dgad687. doi: 10.1210/clinem/dgad687. Online ahead of print.NO ABSTRACTPMID:37997392 | DOI:10.1210/clinem/dgad687 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - November 24, 2023 Category: Endocrinology Authors: Priyanka Bakhtiani Source Type: research

Editorial: Recent advances in diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
(Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - November 22, 2023 Category: Endocrinology Source Type: research