J Pediatr Endocrinol Metab
January 2025
Objectives: Premature ovarian insufficiency (POI) affects 1 in 10,000 children, with its molecular causes largely unknown. Adult studies suggest that low androgen levels induce ovarian insufficiency, but data on about this in children is limited. This study aims to assess the prevalence of low androgen levels in childhood POI and its relationship with adrenal insufficiency.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
December 2024
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency accounts for approximately 95% of all CAH cases and is one of the most common inborn errors of metabolism. While glucocorticoid therapy has significantly improved patient outcomes, the focus has shifted towards managing the long-term effects. Numerous adverse outcomes have been associated with CAH, including those resulting from supraphysiological doses of glucocorticoid and mineralocorticoid replacement, excessive adrenal androgen secretion, and elevated levels of steroid precursors and adrenocorticotropic hormone (ACTH).
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
December 2024
Exposure of the developing brain to androgens during fetal life is known to affect sexual development, including postnatal sex and sexual orientation. However, these relationships are both multifactorial and unpredictable. It is generally assumed that congenital adrenal hyperplasia (CAH) has greater effects in women than in men due to non-physiological adrenal androgen excess.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
October 2024
Noonan Syndrome (NS) diagnosis is challenging due to diverse clinical manifestations. Here, our case report highlights 's novel role in NS. A 10.
View Article and Find Full Text PDF