The Role of Genetics in Central Precocious Puberty: Confirmed and Potential Neuroendocrine Genetic and Epigenetic Contributors and Their Interactions with Endocrine Disrupting Chemicals (EDCs)

Mucci, Andrea; Clemente, Ethel G.

doi:10.3390/endocrines3030035

Cited by 4 publications

(1 citation statement)

References 140 publications

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“…Altered pubertal timing, both early and late puberty, is often recognized as a constituent phenotype in patients presenting with multisystem syndromic developmental disorders with varied genetic causes [ 94 ]. The role of genetics in central precocious puberty has been previously underlined in RTT, Russell–Silver syndrome, Prader–Willi syndrome, MeCP2 duplication syndrome, Temple syndrome, Neurofibromatosis type I, and Williams–Beuren syndrome [ 95 ].…”

Section: Discussionmentioning

confidence: 99%

Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey

Leoncini,

Boasiako,

Lopergolo

et al. 2023

Children

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Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural history and extra-central nervous system (CNS) manifestations for the Italian IQSEC2 population (>90%) by using structured family interviews and semi-quantitative questionnaires. IQSEC2 encephalopathy prevalence estimate was 7.0 to 7.9 × 10−7. Criteria for typical RTT were met in 42.1% of the cases, although psychomotor regression was occasionally evidenced. Genetic diagnosis was occasionally achieved in infancy despite a clinical onset before the first 24 months of life. High severity in both the CNS and extra-CNS manifestations for the IQSEC2 patients was documented and related to a consistently adverse quality of life. Neurodevelopmental delay was diagnosed before the onset of epilepsy by 1.8 to 2.4 years. An earlier age at menarche in IQSEC2 female patients was reported. Sleep disturbance was highly prevalent (60 to 77.8%), with mandatory co-sleeping behavior (50% of the female patients) being related to de novo variant origin, younger age, taller height with underweight, better social interaction, and lower life quality impact for the family and friends area. In conclusion, the IQSEC2 encephalopathy is a rare and likely underdiagnosed developmental encephalopathy leading to an adverse life quality impact.

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Section: Discussionmentioning

confidence: 99%

Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey

Leoncini,

Boasiako,

Lopergolo

et al. 2023

Children

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Assessment of inbreeding coefficients and inbreeding depression on complex traits from genomic and pedigree data in Nelore cattle

Mota,

Carvajal,

Silva Neto

et al. 2024

BMC Genomics

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Background Nelore cattle play a key role in tropical production systems due to their resilience to harsh conditions, such as heat stress and seasonally poor nutrition. Monitoring their genetic diversity is essential to manage the negative impacts of inbreeding. Traditionally, inbreeding and inbreeding depression are assessed by pedigree-based coefficients (F), but recently, genetic markers have been preferred for their precision in capturing the inbreeding level and identifying animals at risk of reduced productive and reproductive performance. Hence, we compared the inbreeding and inbreeding depression for productive and reproductive performance traits in Nelore cattle using different inbreeding coefficient estimation methods from pedigree information (F Ped ), the genomic relationship matrix (F GRM ), runs of homozygosity (F ROH ) of different lengths (> 1 Mb (genome), between 1 and 2 Mb - F ROH 1−2 ; 2–4 Mb F ROH 2−4 or > 8 Mb F ROH >8 ) and excess homozygosity (F SNP ). Results The correlation between F Ped and F ROH was lower when the latter was based on shorter segments (r = 0.15 with F ROH 1−2 , r = 0.20 with F ROH 2−4 and r = 0.28 with F ROH 4−8 ). Meanwhile, the F Ped had a moderate correlation with F SNP (r = 0.47) and high correlation with F ROH >8 (r = 0.58) and F ROH−genome (r = 0.60). The F ROH−genome was highly correlated with inbreeding based on F ROH>8 (r = 0.93) and F SNP (r = 0.88). The F GRM exhibited a high correlation with F ROH−genome (r = 0.55) and F ROH >8 (r = 0.51) and a lower correlation with other inbreeding estimators varying from 0.30 for F ROH 2−4 to 0.37 for F ROH 1−2 . Increased levels of inbreeding had a negative impact on the productive and reproductive performance of Nelore cattle. The unfavorable inbreeding effect on productive and reproductive traits ranged from 0.12 to 0.51 for F Ped , 0.19–0.59 for F GRM , 0.21–0.58 for F ROH−genome , and 0.19–0.54 for F SNP per 1% of inbreeding scaled on the percentage of the mean. When scaling the linear regression coefficients on the standard deviation, the unfavorable inbreeding effect varied from 0.43 to 1.56% for F Ped , 0.49–1.97% for F GRM , 0.34–2.2% for F ROH−genome ...

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Exposure to Low Zearalenone Doses and Changes in the Homeostasis and Concentrations of Endogenous Hormones in Selected Steroid-Sensitive Tissues in Pre-Pubertal Gilts

Gajęcka

Zielonka

Babuchowski³

et al. 2022

Toxins

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This study was undertaken to analyze whether prolonged exposure to low-dose zearalenone (ZEN) mycotoxicosis affects the concentrations of ZEN, α-zearalenol (α-ZEL), and β-zearalenol (β-ZEL) in selected reproductive system tissues (ovaries, uterine horn—ovarian and uterine sections, and the middle part of the cervix), the hypothalamus, and pituitary gland, or the concentrations of selected steroid hormones in pre-pubertal gilts. For 42 days, gilts were administered per os different ZEN doses (MABEL dose [5 µg/kg BW], the highest NOAEL dose [10 µg/kg BW], and the lowest LOAEL dose [15 µg/kg BW]). Tissue samples were collected on days seven, twenty-one, and forty-two of exposure to ZEN (exposure days D1, D2, and D3, respectively). Blood for the analyses of estradiol and progesterone concentrations was collected in vivo on six dates at seven-day intervals (on analytical dates D1–D6). The analyses revealed that both ZEN and its metabolites were accumulated in the examined tissues. On successive analytical dates, the rate of mycotoxin accumulation in the studied tissues decreased gradually by 50% and proportionally to the administered ZEN dose. A hierarchical visualization revealed that values of the carry-over factor (CF) were highest on exposure day D2. In most groups and on most exposure days, the highest CF values were found in the middle part of the cervix, followed by the ovaries, both sections of the uterine horn, and the hypothalamus. These results suggest that ZEN, α-ZEL, and β-ZEL were deposited in all analyzed tissues despite exposure to very low ZEN doses. The presence of these undesirable compounds in the examined tissues can inhibit the somatic development of the reproductive system and compromise neuroendocrine coordination of reproductive competence in pre-pubertal gilts.

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The Role of Genetics in Central Precocious Puberty: Confirmed and Potential Neuroendocrine Genetic and Epigenetic Contributors and Their Interactions with Endocrine Disrupting Chemicals (EDCs)

Cited by 4 publications

References 140 publications

Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey

Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey

Assessment of inbreeding coefficients and inbreeding depression on complex traits from genomic and pedigree data in Nelore cattle

Exposure to Low Zearalenone Doses and Changes in the Homeostasis and Concentrations of Endogenous Hormones in Selected Steroid-Sensitive Tissues in Pre-Pubertal Gilts

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