Genetics of pubertal timing

Mancini, Alessandra; Magnotto, John C; Abreu, Ana Paula

doi:10.1016/j.beem.2022.101618

Cited by 11 publications

(5 citation statements)

References 82 publications

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“…В проведенном нами исследовании клиническая картина наследственных, в том числе моногенных, форм ППР сопоставима с иными центральными формами заболевания, характеризуясь последовательным развитием вторичных половых признаков в сочетании с ускорением темпов роста и костного созревания. Средний возраст манифестации заболевания среди девочек соответствовал 6 годам [ 5,0;6,6], что сопоставимо с зарубежными данными [ 10 ][ 26 ][ 27 ]. Возраст начала пубертата у мальчика в нашем исследовании соответствовал 8,5 годам.…”

Section: Discussionunclassified

“…Доказательства генетической регуляции являются неоспоримыми, что подтверждено рядом популяционных исследований, в которых продемонстрирована корреляция между возрастом начала полового созревания у детей и их родителей, а также более высокая согласованность сроков развития вторичных половых признаков, включая менархе, у монозиготных близнецов. Кроме того, до 27,5% случаев центрального преждевременного полового созревания являются моногенными вариантами и предполагают аутосомно-доминантный характер наследования с неполной пенетрантностью, зависящей от пола [8][9][10][11].…”

Section: обоснованиеunclassified

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Gonadotropin-dependent precocious puberty: genetic and clinical characteristics

Khabibullina

Kolodkina

Vizerov

et al. 2023

Probl Endokrinol (Mosk)

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BACKGROUND: In 90% cases of girls and 25–60% cases of boys the cause of gonadotropin-dependent precocious puberty (PP) is unclear. Up to 25–27.5% of gonadotropin-dependent PP cases are monogenic and suggest autosomal-dominant inheritance with incomplete sex-dependent penetrance. To date, mutations in genes KISS1, KISS1R, MKRN3, DLK1 have been described as causal variants leading to precocious hypothalamic-pituitary axis activation in childhood. Genetic testing in patients with hereditary forms of PP can expand our knowledge of underlying molecular mechanisms of the disease and it is also necessary for genetic counselling.AIM: To study clinical features and genetic characteristics of patients with idiopathic gonadotropin-dependent precocious puberty.MATERIALS AND METHODS: A group of patients with idiopathic gonadotropin-dependent precocious puberty and positive family history (early or precocious puberty) was examined. Laboratory and instrumental diagnostic tests, full-exome sequencing (NGS, next-generation sequencing) were provided for all patients.RESULTS: The study included 30 patients (29 girls, 1 boy) with idiopathic gonadotropin-dependent precocious puberty. The median of patients age at the time of the examination was 7,2 years [6,5; 7,7]. Positive family history presented in all cases: in 40% of patients on father’s side, in 37% — on mother’s side, in 23% of patients PP was diagnosed in siblings. The fullexome sequencing was conducted to 21 patients: in 61,9% of cases (95% CI [40;79]) nucleotide variants were identified in genes, associated with gonadotropin-dependent precocious puberty. MKRN3 gene defect was detected in most cases (77% cases (95% CI [49; 92]), which consistent with international data on its highest prevalence in the monogenic forms of PP. In 23% of cases (95% CI [7; 50]) nucleotide variants were identified in other candidate genes associated with neuroontogenesis and neuroendocrine regulation mechanisms of hypothalamic-pituitary axis.CONCLUSION: Our study confirms that detailed family history data in children with PP provides a rational approach to molecular-genetic testing. Data of inheritance pattern and clinical manifestations will simplify the diagnosis of hereditary forms of disease and enhance genetic counselling of families, followed by timely examination and administration of pathogenetic therapy.

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Section: Discussionunclassified

Section: обоснованиеunclassified

Gonadotropin-dependent precocious puberty: genetic and clinical characteristics

Khabibullina

Kolodkina

Vizerov

et al. 2023

Probl Endokrinol (Mosk)

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“…Kisspeptins belonging to the neuropeptide family may be associated with female puberty initiation and ovulation regulation through the central control of the hypothalamus–pituitary–gonad axis. Increased prenatal or early childhood exposure to phthalates positively correlates with elevated kisspeptin concentrations, suggesting that such exposure may accelerate sexual maturation in girls ( 22 , 25 – 27 ). Although epidemiological studies have limitations, they suggest that phthalates may affect reproductive outcomes and children’s health.…”

Section: Introductionmentioning

confidence: 99%

Phthalates exposure and pubertal development in a 15-year follow-up birth cohort study in Taiwan

Huang

Wang

et al. 2023

Front. Endocrinol.

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PurposePhthalates are ubiquitous endocrine disruptors that can affect pubertal development in children. The association of fetal and childhood levels of phthalates with pubertal development were explored.MethodsWe conduct a population-based birth cohort study to investigate the association between prenatal and childhood exposure to phthalates and pubertal development. Initially, a total of 445 children were recruited from 2000 to 2001, of which 90 children were followed for 15 years which measurements of urine and development assessed at 2, 5, 8, 11, and 14 years. We defined higher Tanner stage as the 14-year-old Tanner stage ≥ 4 and 5 for boys and girls, respectively. A logistic regression analysis was conducted to estimate the crude and adjusted odds ratio of a higher Tanner stage at 14 years old. The Pearson correlation coefficient and multiple linear regression were used to estimate the association of testicular volume, uterine volume, ovarian volume, and blood hormones at 14 years of age with the log-transformed concentration of phthalates at 2, 5, 8, 11, and 14 years.ResultsIn boys, a significantly different geometric mean of mono-benzyl phthalate (MBzP) was observed in 11-year-olds; 6.82 and 2.96 in the lower Tanner stage group and higher Tanner stage group. In girls, a significant difference in the geometric mean of mono(2-ethyl-5-hydroxyhexyl) phthalate (MEHHP) in 11-year-olds and mono-ethyl phthalate (MEP) in 2-year-olds was observed; MEHHP was 32.97 and 18.13 in the lower Tanner stage group and higher Tanner stage group, and MEP was 26.54 and 65.74 in the lower Tanner stage group and higher Tanner stage group, respectively. Uterine volume at 14 years old was negatively associated with several phthalate metabolites (MEHP at 8 years old, MnBP at 8 years old, MBzP at 14 years old, MMP prenatally, MMP at 8 years old, and MEP at 8 years old) after adjusting for covariates. However, no significant correlations were found between phthalate metabolites and ovarian or testicular volume.ConclusionPhthalate exposure at certain time points may influence the reproductive development of children during puberty; however, further studies should be conducted to determine the causal nature of this association.

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“…Puberty is a complex stage that is easily affected by genetic and environmental factors. Mancini A pointed out that genes can explain 50-80% of abnormal timing of puberty onset (5). Besides, nutrients and diets in early life and childhood are linked to early puberty (6).…”

Section: Introductionmentioning

confidence: 99%

The association between sleep and early pubertal development in Chinese children: a school population-based cross-sectional study

Tang,

Yu,

Jiang

et al. 2023

Front. Endocrinol.

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BackgroundThere is an increasing tendency toward early pubertal development, and sleep might be related to pubertal onset. We aimed to investigate the association of sleep duration and bedtime with early pubertal development.MethodsThis was a cross-sectional study of 8,007 children (53.6% boys) from Qufu city, Shandong province and Zhongshan city, Guangdong province, China. Data on sleep duration and bedtime were obtained by questionnaire. Early pubertal development was the primary outcome and it was evaluated by the pediatrician according to Tanner staging. Logistic regression models were used to separately examine the association between sleep duration or bedtime and early pubertal development, controlling body mass index (BMI), dietary pattern, soft drink, feeding pattern and mother’s BMI.ResultsIn boys, short sleep duration was strongly related to early pubertal development [OR (95%CI): 4.26 (1.30, 13.94)], and this association was intensified after adjusted BMI, dietary pattern, soft drink, feeding pattern and mother’s BMI. In girls, OR (95%CI) was 1.62 (1.04, 2.51), and increased after controlling BMI. Bedtime was associated with early pubertal development on weekdays [OR (95%CI): 6.39 (1.54, 26.45) in boys and 1.93 (1.23, 3.05) in girls], but not on weekends [OR (95%CI): 2.49 (0.61, 10.21) in boys; 1.31 (0.76, 2.25) in girls].ConclusionThis study underscores the positive association between the risk of early pubertal development and insufficient sleep duration and late bedtime.

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Genetics of pubertal timing

Cited by 11 publications

References 82 publications

Gonadotropin-dependent precocious puberty: genetic and clinical characteristics

Gonadotropin-dependent precocious puberty: genetic and clinical characteristics

Phthalates exposure and pubertal development in a 15-year follow-up birth cohort study in Taiwan

The association between sleep and early pubertal development in Chinese children: a school population-based cross-sectional study

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