Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study

Winter, S.T.; Durand, Adélaïde; Brauner, Raja

doi:10.3389/fped.2019.00035

Cited by 22 publications

(16 citation statements)

References 64 publications

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“…The PROS study reported a downward trend in pubertal onset in females [Herman-Giddens et al, 1997] suggesting that standards need to be redefined in order to provide appropriate education and care by professionals and parents alike. Historically, precocious puberty (onset <8 years in females and 9 years in males) or early puberty (onset between 8 and 9 years in females and between 9 and 10.5 years in males) can be considered a normal variant [Winter, Durand, & Brauner, 2019]. A portion of the females with ASD would likely meet criteria for precocious puberty and an even larger proportion would meet criteria for early puberty.…”

Section: Discussionmentioning

confidence: 99%

Pubertal Timing During Early Adolescence: Advanced Pubertal Onset in Females with Autism Spectrum Disorder

et al. 2020

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Autism spectrum disorder (ASD) is characterized by impaired social communication and poor adaptation to change; thus, the onset of puberty may be a pivotal transition. This cross-sectional study measured pubertal timing to examine hypothesized differences for sex (female vs. male) and group (ASD vs. typical development [TD]). Participants included 239 children (137 ASD, 102 TD) between 10 and 13 years. The ASD group included 35 females and 102 males; the TDs included 44 females and 58 males. Pubertal onset measured by genital or pubic stage was investigated with linear regression using main effects of sex and age-by-sex interactions in TD and ASD groups and main effects of diagnosis and diagnosis-by-age interactions in males and females, controlling for body mass index, socioeconomic status, and race. In TD, examination of main effects for genital (penis/breast) stage showed no difference for male and female children (t = 1.33, P = 0.187, rdf = 92); however, there were significant differences in ASD (t = 2.70, P = 0.008, rdf = 121). For diagnosis modeled separately by sex, there was significantly earlier pubertal development in females with ASD (t = 1.97, P = 0.053, rdf = 70, but not males (t = 1.329, P = 0.186, rdf = 143). In addition, analysis of menses revealed females with ASD had significantly earlier onset than TD (t = −2.56, P = 0.018, rdf = 21). Examination of pubic stage revealed expected sex differences for TD (t = 2,674, P = 0.009, rdf = 91) and ASD (t = 3.482, P = 0.001, rdf = 121). Females with ASD evidence advanced pubertal onset relative to ASD males and TD females. Findings underscore the need for enhanced understanding of pubertal development in ASD, as differences may have significant psychological, social, physiological, and developmental consequences.

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Section: Discussionmentioning

confidence: 99%

Pubertal Timing During Early Adolescence: Advanced Pubertal Onset in Females with Autism Spectrum Disorder

et al. 2020

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“…↑/↓ denotes higher/lower steroid or steroid ratio in ASD group compare to control group; ASD, autism spectrum disorder; C, conjugate; CTRL, control; S, sulfate; NA, hormone not assessed; (↑/↓), non-significant difference ↑/↓ significant difference between CTRL and ASD in favor to ASD with p value up to p = 0.2 according to the results presented in Tables 1 and 2. etiocholanolone, androstenediol, 11β-hydroxyandrosterone, 11β-hydroxyetiocholanolone, DHEA, 5-androstene-3β, 17β-diol in ASD compared to CTRL. This fact might be explained by precocious adrenarche leading to premature puberty described even in individuals having ASD 13,25 . Gasser et al analyzed steroid pathway in pubertal individuals, thus, sexual maturity have to be critically taken into account 12 .…”

Section: Discussionmentioning

confidence: 99%

“…They observed significantly higher level of most of the measured androstanes like androsterone, etiocholanolone, androstenediol, 11β-hydroxyandrosterone, 11β-hydroxyetiocholanolone, DHEA, 5-androstene-3β, 17β-diol in ASD compared to CTRL. This fact might be explained by precocious adrenarche leading to premature puberty described even in individuals having ASD 13 , 25 . Gasser et al analyzed steroid pathway in pubertal individuals, thus, sexual maturity have to be critically taken into account 12 .…”

Section: Discussionmentioning

confidence: 99%

Alteration of the steroidogenesis in boys with autism spectrum disorders

et al. 2020

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The etiology of autism spectrum disorders (ASD) remains unknown, but associations between prenatal hormonal changes and ASD risk were found. The consequences of these changes on the steroidogenesis during a postnatal development are not yet well known. The aim of this study was to analyze the steroid metabolic pathway in prepubertal ASD and neurotypical boys. Plasma samples were collected from 62 prepubertal ASD boys and 24 age and sex-matched controls (CTRL). Eighty-two biomarkers of steroidogenesis were detected using gas-chromatography tandem-mass spectrometry. We observed changes across the whole alternative backdoor pathway of androgens synthesis toward lower level in ASD group. Our data indicate suppressed production of pregnenolone sulfate at augmented activities of CYP17A1 and SULT2A1 and reduced HSD3B2 activity in ASD group which is partly consistent with the results reported in older children, in whom the adrenal zona reticularis significantly influences the steroid levels. Furthermore, we detected the suppressed activity of CYP7B1 enzyme readily metabolizing the precursors of sex hormones on one hand but increased anti-glucocorticoid effect of 7α-hydroxy-DHEA via competition with cortisone for HSD11B1 on the other. The multivariate model found significant correlations between behavioral indices and circulating steroids. From dependent variables, the best correlation was found for the social interaction (28.5%). Observed changes give a space for their utilization as biomarkers while reveal the etiopathogenesis of ASD. The aforementioned data indicate a direction of the future research with a focus on the expression and functioning of genes associated with important steroidogenic enzymes in ASD patients from early childhood to adrenarche.

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“…DLK1 loss-of-function mutations determine a more complex, yet infrequent phenotype characterized by CPP, overweight, early Type 2 Diabetes, hyperlipidemia and Polycistic Ovary Syndrome (7). Besides that, rare cases of patients with CPP primarily related to clinical syndromes or chromosomal abnormalities have been identi ed (8).…”

Section: Introductionmentioning

confidence: 99%

Molecular Screening of PROKR2 Gene in Girls with very early Idiopathic Central Precocious Puberty.

Aiello

Cirillo

Cassio

et al. 2020

Preprint

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Background Prokineticin receptor 2 (PROKR2) loss of function mutations have been described as cause of hypogonadotropic hypogonadism. In 2017 a first case of central precocious puberty (CPP) caused by heterozygous gain of function mutation in PROKR2 was described in a 3.5-year‐old girl. No other cases have been reported yet. This study performs a molecular screening in girls with “early” onset CPP (breast budding before 6 years of age) in order to identify possible alterations in PROKR2.Methods We analyzed DNA of 31 girls with idiopathic CPP diagnosed via basal LH levels > 0.3 IU/L or peak-LH > 5UI/L after stimulation, negative for MKRN3 mutations. The Fisher exact test was used to compare allele frequency of polymorphism found to Exome Aggregation Consortium (ExAC) dataset.Results No rare variants were identified. Five polymorphisms were found (rs6076809, rs8116897, rS3746684, rs3746682, rs3746683). All except one (i.e. rs3746682) had a minor allele frequency similar to that reported in literature. rs3746682 presented a minor allele frequency higher than described in The Exome Aggregation Consortium (ExAC) (0.84 in our population vs 0.25 from ExAC).Conclusions As for other G-protein-coupled receptors (i.e. GPR54), mutations in PROKR2 do not seem to be a frequent cause of CPP in girls.

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Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study

Cited by 22 publications

References 64 publications

Pubertal Timing During Early Adolescence: Advanced Pubertal Onset in Females with Autism Spectrum Disorder

Pubertal Timing During Early Adolescence: Advanced Pubertal Onset in Females with Autism Spectrum Disorder

Alteration of the steroidogenesis in boys with autism spectrum disorders

Molecular Screening of PROKR2 Gene in Girls with very early Idiopathic Central Precocious Puberty.

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