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Context The gonadotropin-releasing hormone receptor variant GNRHR p.Q106R (rs104893836) in homozygosity, compound heterozygosity, or single heterozygosity is often reported as the causative variant in idiopathic hypogonadotropic hypogonadism (IHH) patients with GnRH deficiency. Genotyping of a Maltese newborn cord-blood collection yielded a minor allele frequency (MAF) 10 times higher (MAF = 0.029; n = 493) than that of the global population (MAF = 0.003). Objective To determine whether GNRHR p.Q106R in heterozygosity influences profiles of endogenous hormones belonging to the hypothalamic-pituitary axis and the onset of puberty and fertility in adult men (n = 739) and women (n = 239). Design, Setting, and Participants Analysis of questionnaire data relating to puberty and fertility, genotyping of the GNRHR p.Q106R variant, and hormone profiling of a highly phenotyped Maltese adult cohort from the Maltese Acute Myocardial Infarction Study. Main Outcome and Results Out of 978 adults, 43 GNRHR p.Q106R heterozygotes (26 men and 17 women) were identified. Hormone levels and fertility for all heterozygotes are within normal parameters except for TSH, which was lower in men 50 years or older. Conclusion Hormone data and baseline fertility characteristics of GNRHR p.Q106R heterozygotes are comparable to those of homozygous wild-type individuals who have no reproductive problems. The heterozygous genotype alone does not impair the levels of investigated gonadotropins and sex steroid hormones or affect fertility. GNRHR p.Q106R heterozygotes who exhibit IHH characteristics must have at least another variant, probably in a different IHH gene, that drives pathogenicity. We also conclude that GNRHR p.Q106R is likely a founder variant due to its overrepresentation and prevalence in the island population of Malta. [ABSTRACT FROM AUTHOR]

Background One of the lesser-known comes of hypothyroidsm Is Perchlorate exposure. a by-product of legwork:. Recent; ludic in the Mehra island: showed increased concentrator, of perchlorate in dust fat leading to public concerns about as health effects. This study alms to exanSne the hypothyroidism trends In the resident Maltese population and assess for a ink with perchlorate exposure. Methods A retrospective ecological study using laboratory and population data was carried out to calculate the crude and direct age-standardised incidence rates of hypothymicrom in the resident population. Results Stginercanty lower overall age-standardised incidence rates for hypothyroidism were found In the region of Gozo: however no clearly climemitde geographical pattern of hypothyroidism with clear potential link to perchlorate exposure was found. Concluson The lower hypothyroid incidence rates n Gozo warrant a comparative study to establish whether that deference attributable to differing levels of perchlorate exposure from deferent scale of firework use. [ABSTRACT FROM AUTHOR]