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.

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

Hypoglycaemia in adrenal insufficiency
Adrenal insufficiency encompasses a group of congenital and acquired disorders that lead to inadequate steroid production by the adrenal glands, mainly glucocorticoids, mineralocorticoids and androgens. These may be associated with other hormone deficiencies. Adrenal insufficiency may be primary, affecting the adrenal gland’s ability to produce cortisol directly; secondary, affecting the pituitary gland’s ability to produce adrenocorticotrophic hormone (ACTH); or tertiary, affecting corticotrophin-releasing hormone (CRH) production at the level of the hypothalamus. Congenital causes of adrenal insufficiency include the...
Source: Frontiers in Endocrinology - November 20, 2023 Category: Endocrinology Source Type: research

Major immunophenotypic abnormalities in patients with primary adrenal insufficiency of different etiology
DiscussionIn patients with different etiologies of PAI, distinct differences in T and NK cell-phenotypes became apparent despite the use of same GC preparation and dose. Our results highlight unsuspected differences in immune cell composition and function in PAI patients of different causes and suggest disease-specific alterations that might necessitate disease-specific treatment. (Source: Frontiers in Immunology)
Source: Frontiers in Immunology - November 15, 2023 Category: Allergy & Immunology Source Type: research

Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11 β-Hydroxylase deficiency in a Chinese patient
ConclusionThis report showed a rare CYP11B2/CYP11B1 chimera combined with a novel missense variant in a 11β-OHD female patient. The result expands variant spectrum of CYP11B1 and suggests that both chimera and CYP11B1 variant screening should be performed simultaneously in suspected cases of 11β-OHD. To our knowledge, this is the first report about CYP11B2/CYP11B1 chimera detected by WES analysis. WES combined with CNV analysis is an efficient method in the genetic diagnosis of this rare and complex disorder. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - November 13, 2023 Category: Endocrinology Source Type: research

Glucose pattern in children with classical congenital adrenal hyperplasia : evidence from continuous glucose monitoring
CONCLUSION: CGM demonstrated a disrupted daily glucose pattern in children with CAH, paralleled by a lower cortisol concentration.FUNDING: None.PMID:37952170 | DOI:10.1093/ejendo/lvad147 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - November 12, 2023 Category: Endocrinology Authors: Alfonso Galderisi Dulanjalee Kariyawasam Athanasia Stoupa Adrien Nguyen Quoc Graziella Pinto Magali Viaud Severine Brabant Jacques Beltrand Michel Polak Dinane Samara-Boustani Source Type: research

The experience of diagnosis announcement in rare endocrine diseases: a survey of the French FIRENDO network
CONCLUSION: This work suggests that better knowledge of the patient's experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.PMID:37951412 | DOI:10.1016/j.ando.2023.10.008 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - November 11, 2023 Category: Endocrinology Authors: Haifa Rahabi Maria Givony B éatrice Demaret Fr édérique Albarel Marie-Reine Aubron Beate Bart ès Lucie Bernard Hendy Abdoul Naim Bouazza Philippe Brun Delphine Drui V éronique Dujardin Catherine Lan çon Sabine Malivoir Ir ène Netchine B énédicte Source Type: research