Hypogonadotrophic hypogonadism (HH) is a rare disorder that manifests absent puberty and infertility. Genetic syndromes with hypogonadism, such as Klinefelter syndrome, are associated with an increased risk of neurodevelopmental disorders (NDDs). However, it is not clear whether patients with HH or transient delayed puberty in general, have an increased risk of NDDs. We performed a register-based study on a national cohort of 264 patients with HH and 7447 patients diagnosed with delayed puberty that was matched with 2640 and 74 470 controls, respectively. The outcome was defined as having any of the following NDD diagnoses: (i) autism spectrum disorder (ASD); (ii) attention deficit hyperactivity disorder (ADHD); or (iii) intellectual disability (ID). Additional sensitivity analyses were performed to control for different parental and birth variables, as well as diagnosed malformation syndromes and chromosomal anomalies (ie, Down's and Turner syndromes). Patients with HH had increased risk for being diagnosed with ASD (odds ratio [OR] = 5.7; 95% confidence interval [CI] = 2.6-12.6), ADHD (OR = 3.0; 95% CI = 1.8-5.1) and ID (OR = 18.0; 95% CI = 8.9-36.3) compared to controls. Patients with delayed puberty also had a significantly increased risk of being diagnosed with an NDD. These associations remained significant after adjustments. This is the first study to demonstrate a significant association between HH, delayed puberty and NDDs in a population-based cohort. Clinicians should be aware of the overlap between these disorders. Further studies should explore the mechanisms behind these associations.
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http://dx.doi.org/10.1111/jne.12803 | DOI Listing |
J Appl Genet
January 2025
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in the majority of patients, is still undefined. The aim was to identify novel and recurrent pathogenic/likely pathogenic variants in patients with isolated infertility or puberty delay using a targeted NGS technique.
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January 2025
X Jiang, Human Sperm Bank, Sichuan University West China Second University Hospital, Chengdu, China.
Anti-Müllerian hormone (AMH), a biomarker secreted by Sertoli cells in the testes, has emerged as a critical indicator of male reproductive function with significant clinical application potential. AMH reflects Sertoli cell activity and plays a pivotal role across different stages of male gonadal function. Firstly, in prepubertal males, AMH levels are crucial for assessing testicular development and the progression of puberty, with delayed or insufficient AMH secretion often being associated with disorders like delayed puberty.
View Article and Find Full Text PDFVet Parasitol
January 2025
Centro de Investigaciones Básicas y Aplicadas, Universidad Nacional del Noroeste de la Provincia de Buenos Aires, Junín, Buenos Aires 6000, Argentina; Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires, CITNOBA, UNNOBA - UNSAdA - CONICET, Monteagudo 2772, Pergamino, Buenos Aires 2700, Argentina. Electronic address:
Dairy heifers with gastrointestinal nematodes have reduced growth rates, and delayed age at puberty and milk production onset related to late mammary gland development. IGF1 and Notch signaling systems are important in this process, and an altered profile of serum IGF1 has been associated with the detrimental effect of the nematodes on parenchymal development. In this context, we aimed to study the molecular mechanisms involved in bovine mammary gland development around pre and postpuberty, focusing on proliferative and angiogenic processes that involve the Notch and IGF1 pathways.
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January 2025
3Department of Metabolism, Digestion and Reproduction, Imperial College London.
Pubertal disorders in the form of delayed puberty (DP) or precocious puberty (PP) can cause considerable anxiety to both children and parents. Since the clinical and biochemical signatures of self-limiting and permanent conditions overlap considerably, it can be hard to determine whether to offer them reassurance or intervention. Researchers have thus long been searching for a robust test to indicate that the process of endogenous puberty is underway and is likely to proceed to completion.
View Article and Find Full Text PDFCureus
December 2024
Department of Obstetrics and Gynecology, Royal Medical Services, Amman, JOR.
Ovarian agenesis (OA) is a rare congenital condition characterized by the absence of one or both ovaries, often associated with chromosomal abnormalities, hormonal imbalances, and structural deformities. The condition is frequently diagnosed in females presenting with primary amenorrhea and delayed sexual development. This case report highlights a unique presentation of bilateral ovarian agenesis in a patient with chromosome X translocation, bone modeling disease, and primary amenorrhea.
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