Objective: Congenital adrenal hyperplasia (CAH) is the most common cause of adrenal insufficiency in pediatrics. Chronic glucocorticoid replacement is the mainstay of treatment in the classic forms of CAH, and mineralocorticoid replacement therapy is mandatory in the salt-wasting form. Fasting is a mild stressor, which can expose to dehydration, hypotension, hypoglycemia, and acute adrenal crisis in patients with adrenal insufficiency.
Case: We report the case of an adolescent affected by the classic form with salt-losing CAH, who observed Ramadan for 30 days, without individualized therapeutic management plan. After Ramadan, a dramatic increase of ACTH level (1081 pg/ml, n.v. 6-57), reduced cortisolemia, tendency to hypotension, and weight loss were recorded. She experienced insomnia, intense thirst, asthenia, and headache. The symptoms disappeared restarting the previous therapy schedule and increasing the total hydrocortisone daily dose with progressive restoring of hormonal control.
Conclusion: Our case confirms that patients with CAH are vulnerable, especially during fasting in Ramadan, with a higher risk of acute adrenal crisis. CAH patients should reform and individualize their treatment plan and be submitted to careful monitoring.
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http://dx.doi.org/10.1155/2020/6688927 | DOI Listing |
Ned Tijdschr Geneeskd
January 2025
St. Antoniusziekenhuis, Nieuwegein. Afd. Interne Geneeskunde.
Excessive hair growth is a common and distressing complaint in women. It is imperative to differentiate excessive hair growth from hirsutism with possible other signs of virilization. Hirsutism is commonly attributed to polycystic ovary syndrome (PCOS).
View Article and Find Full Text PDFJCEM Case Rep
February 2025
Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the gene (c.779C > T/p.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Department of Endocrinology, Sydney Children's Hospital, Randwick, NSW, Australia.
Introduction: Pre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families' lived experiences with CAH and the couples' subsequent fertility journey.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
The most common form of congenital adrenal hyperplasia (CAH) is secondary to 21-hydroxylase deficiency (21OHD). This review will summarize the clinical manifestations, recommended treatments, monitoring, clinical challenges and management strategy, and treatment challenges in special situations for infants and children with classic CAH due to 21OHD. Specifically, we review newborn screening and the initial diagnosis, glucocorticoid and mineralocorticoid treatment, and recommended monitoring, including anthropometric and laboratory measures.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Division of Pediatric Endocrinology, Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that manifests clinically in varying forms depending on the degree of enzyme deficiency. CAH is most commonly caused by 21-hydroxylase deficiency (21OHD) due to mutations in the CYP21A2 gene. Whereas there is a spectrum of disease severity, 21OHD is generally categorized into 3 forms.
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