GnRH-dependent precocious puberty in a boy with Leydig-cell tumor is presented. Precocious activation of the hypothalamo-pituitary axis was caused by long-term exposition to sex-steroids. Long-acting LHRH-analog treatment suppressed the process of precocious puberty.
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BMC Med Genomics
January 2025
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
Background: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. The disorder exhibits variable clinical severity, with the classical form manifesting as salt-wasting crisis in neonates, while inducing ambiguous genitalia in females and precocious puberty in males through simple virilization. Identifying at-risk couples during the preconception stage holds significance for optimizing reproductive choices.
View Article and Find Full Text PDFAnimal Model Exp Med
January 2025
Guangdong Medical Laboratory Animal Center, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China.
Background: Makorin ring finger protein 3 gene (MKRN3) gene mutation is the most common genetic cause of central precocious puberty (CPP) in children. Due to the lack of ideal MKRN3-modified animal model (MKRN3-modified mice enter puberty only 4-5 days earlier than normal mice), the related research is limited.
Methods: Therefore, the MKRN3-modified rabbit was developed using CRISPR (clustered regularly interspaced short palindromic repeats) gene editing technology.
Toxins (Basel)
December 2024
Zhejiang Provincial Center for Disease Control and Prevention, Hangzhou 310051, China.
This study aims to examine the hazards of zearalenone (ZEN) to humans and assess the risk of dietary exposure to ZEN, particularly in relation to precocious puberty in children from the Zhejiang Province. The test results from five types of food from the Zhejiang Province show that corn oil has the highest detection rate of 87.82%.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Department of Paediatrics, School of Medical Sciences, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Objectives: Kisspeptin plays a major role in the onset of puberty by stimulating the gonadotropin-releasing hormone (GnRH) neurons. The aim of this study was to investigate whether GnRH inhibits kisspeptin secretion via a negative feedback mechanism and potential associations between kisspeptin levels and other hormones of importance for pubertal onset.
Methods: Thirteen girls with suspected central precocious puberty underwent a GnRH stimulation test twice in a randomized, placebo-controlled manner.
Scand J Clin Lab Invest
January 2025
Department of Medical Biochemistry, Ministry of Health, Ankara Bilkent City Hospital, Ankara, Turkey.
Analytical errors related to endogenous or exogenous substances are a cause of unnecessary investigation, intervention, and patient concern especially in immunoassay platforms. In this report, we systematically screened for estradiol interference using a practical algorithm. For extended research in interference screening, repeated estradiol measurements for control and case samples were carried out for method comparison (three immunoassay platforms and one liquid chromatography-mass spectrometry (LC-MS/MS) measurement), dilution test, polyethylene glycol (PEG) precipitation, and heterophile antibody blocking tube.
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