Extensive Literature Review of 46, XX Newborns with Congenital Adrenal Hyperplasia (CAH) and Severe Genital Masculinization: Should They be Assigned and Reared Male?
J Clin Res Pediatr Endocrinol. 2023 Dec 27. doi: 10.4274/jcrpe.galenos.2023.2023-10-17. Online ahead of print.ABSTRACT46, XX individuals born with severely masculinized genitals due to congenital adrenal hyperplasia (CAH) who have been assigned males at birth and reared male can successfully establish a male gender identity/role, find employment, marry, function sexually with a female partner, and develop positive mental health status. While there were a few individuals who reportedly did not fare well or who changed gender to female, the majority of those identifying as males appear to have an overall good quality of life...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 27, 2023 Category: Endocrinology Authors: Tom Mazur Jennifer O'Donnell Peter A Lee Source Type: research

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