Heritability of testosterone levels in 12-year-old twins and its relation to pubertal development

The aim of this study was to estimate the heritability of variation in testosterone levels in 12-year-old children, and to explore the overlap in genetic and environmental influences on circulating testosterone levels and androgen dependent pubertal development. Midday salivary testosterone samples were collected on two consecutive days in a sample of 183 unselected twin pairs. Androgen induced pubertal development was assessed using self report Tanner scales of pubic hair development (boys and girls) and genital development (boys). A significant contribution of genetic effects to the variance in testosterone levels was found. Heritability was approximately 50% in both boys and girls. The remaining proportion of the variance in testosterone levels could be explained by non-shared environmental influences. The relatively high correlation between testosterone levels of opposite sex dizygotic twins suggests that sex differences in genes influencing variation in testosterone levels have not yet developed in pre- and early puberty. Variance in pubertal development was explained by a large genetic component, moderate shared environmental influences, and a small non-shared environmental effect. Testosterone levels correlated moderately (r = .31) with pubertal development; the covariance between testosterone levels and pubertal development was entirely accounted for by genetic influences

Management of the child born small for gestational age through to adulthood: A consensus statement of the international societies of pediatric endocrinology and the Growth Hormone Research Society

Objective: Low birth weight remains a major cause of morbidity and mortality in early infancy and childhood. It is associated with an increased risk of health problems later in life, particularly coronary heart disease and stroke. A meeting was convened to identify the key health issues facing a child born small for gestational age (SGA) and to propose management strategies. Participants: There were 42 participants chosen for their expertise in obstetrics, peri- and neonatal medicine, pediatrics, pediatric and adult endocrinology, epidemiology, and pharmacology. Evidence: Written materials were exchanged, reviewed, revised, and then made available to all. This formed the basis for discussions at the meeting. Where published data were not available or adequate, discussion was based on expert clinical opinions. Consensus Process: Each set of questions was considered by all and then discussed in plenary sessions with consensus and unresolved issues identified. The consensus statement was prepared in plenary sessions and then edited by the group chairs and shared with all participants. Conclusions: The diagnosis of SGA should be based on accurate anthropometry at birth including weight, length, and head circumference. We recommend early surveillance in a growth clinic for those without catch-up. Early neurodevelopment evaluation and interventions are warranted in at-risk children. Endocrine and metabolic disturbances in the SGA child are recognized but infrequent. For the 10% who lack catch-up, GH treatment can increase linear growth. Early intervention with GH for those with severe growth retardation (height SD score, < -2.5; age, 2-4 yr) should be considered at a dose of 35-70 mu g/kg center dot d. Long-term surveillance of treated patients is essential. The associations at a population level between low birth weight, including SGA, and coronary heart disease and stroke in later life are recognized, but there is inadequate evidence to recommend routine health surveillance of all adults born SGA outside of normal clinical practice

New developments and future trajectories in supernumerary sex chromosome abnormalities:: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY

Education and Child Studie

Pathophysiology of Male Hypogonadism Associated with Endogenous Hyperestrogenism — Evidence for Dual Defects in the Gonadal Axis

FEMINIZING tumors of the adrenal cortex are associated with symptoms that presumably reflect the combined effects of estrogen excess and androgen deficiency — gynecomastia, diminished libido, attenuated potency, and testicular and prostatic atrophy.1 2 3 4 5 Although such tumors are extremely rare, they provide a unique opportunity to appraise the nature of endogenous estrogen action on the gonadal axis in men. In principle, the pathophysiologic effects of estrogen hypersecretion could be expressed at the level of either the Leydig cell or the hypothalamic–pituitary axis (or both), with consequent suppression of androgen production. In the present studies, we investigated the endocrine consequences of reversible endogenous estrogen excess in a patient with a surgically resectable feminizing adrenal cortical tumor

Effect of local cold-pack application on systemic anabolic and inflammatory response to sprint-interval training: a prospective comparative trial

We evaluated the effect of cold ice-pack application following a brief sprint-interval training on the balance between anabolic mediators [growth hormone (GH), insulin-like growth factor-I (IGF-I), testosterone], catabolic markers (cortisol, IGFBP-1), and circulating pro [Interlukin-6 (IL-6) and IL-1β]- and anti-inflammatory cytokines [IL-1 receptor antagonist (IL-1ra)]. Twelve males, elite junior handball players performed 4 × 250 m treadmill run, at 80% of each individual’s maximal speed, followed by a rest period with and without local cold-pack application. Pre, immediately post, and 60-min post-exercise blood samples were drawn. Exercise was associated with a significant increase in IL-6, GH, IGFBP-3, and testosterone levels. Local cold-pack application was associated with significant decreases in IL-1β, IL-1ra, IGF-I, and IGFBP-3 and a greater increase of IGFBP-1 during recovery. Local ice therapy immediately following sprint-interval training was associated with greater decreases in both pro- and anti-inflammatory cytokines and anabolic hormones supporting some clinical evidence for possible negative effects on athletic performance

Índice de Massa Corporal, Idade, Maturação Sexual e a Incidência de Hiperlordose Lombar em crianças e adolescentes

Introduction: Hyperlordosis can cause several degenerative spinal pathologies in children and adolescents. Objective: Determine whether body mass index, age and sexual maturation predict the occurrence of hyperlordosis in children and adolescents. Method: The study analyzed 380 students aged between 10 and 18 years. Body mass index was evaluated using the reference values suggested by the Fitnessgram test battery, and sexual maturation through Tanner’s scale of self-assessed pubic hair growth. Postural assessment was conducted using the DIPA photogrammetry method, version 3.1. (Digital Image Based Postural Assessment) The SPSS 24.0 program was used to analyze the data, and the following statistical tests were applied: chi squared, Mann-Whitney, Fisher’s exact and binary logistic regression. Results: There was statistical significance between hyperlordosis, girls’ age and puberty in boys (p 0.05). Conclusion: The girls’ age and boys’ stage of puberty were associated with the occurrence of hyperlordosis.Introdução: A Hiperlordose lombar pode ocasionar diversas patologias degenerativas na coluna vertebral de crianças e adolescentes. Objetivo: Identificar se o Índice de Massa Corporal, a Idade e a Maturação Sexual são previsores da ocorrência da hiperlordose lombar em crianças e adolescentes. Método: O estudo analisou 380 estudantes entre 10 e 18 anos. O Índice de Massa Corporal foi avaliado por meio dos valores de referência sugeridos pela bateria de testes Fitnessgram e a maturação sexual por meio da auto-avaliação da pilosidade pubiana de Tanner. A avaliação postural foi realizada pelo método de fotogrametria DIPA versão 3.1. (Avaliação Postural Baseada em Imagem Digital). Para análise dos dados foi utilizado o programa SPSS 24.0, tendo sido aplicados os testes estatísticos: Qui-Quadrado, Mann Whitney, Exato de Fisher e Regressão Logística Binária. Resultados: Observou-se que houve significância estatística entre a Hiperlordose lombar e a idade das meninas e a puberdade dos meninos (p0,05). Conclusão: A idade das meninas e a puberdade dos meninos foi associada à ocorrência da hiperlordose lombar.This study was funded by CIEC (Center for Investigations in Childhood Studies), Strategic Project UID/CED/00317/2013, via National FCT (Science and Technology Foundation) funds and co-funded by the European Regional Development Fund (FEDER), via COMPETE 2020 – Competitivity and Internalization Operational Program (POCI) under reference number POCI-01-0145-FEDER-007562

Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective

The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six international experts participated at the invitation of GRS including clinicians, basic scientists, and representatives from regulatory agencies and the pharmaceutical industry. Following plenary presentations addressing the current diagnosis and therapy of short stature in children, breakout groups discussed questions produced in advance by the planning committee and reconvened to share the group reports. A writing team assembled one document that was subsequently discussed and revised by participants. Participants from regulatory agencies and pharmaceutical companies were not part of the writing process. Short stature is the most common reason for referral to the pediatric endocrinologist. History, physical examination, and auxology remain the most important methods for understanding the reasons for the short stature. While some long-standing topics of controversy continue to generate debate, including in whom, and how, to perform and interpret growth hormone stimulation tests, new research areas are changing the clinical landscape, such as the genetics of short stature, selection of patients for genetic testing, and interpretation of genetic tests in the clinical setting. What dose of growth hormone to start, how to adjust the dose, and how to identify and manage a suboptimal response are still topics to debate. Additional areas that are expected to transform the growth field include the development of long-acting growth hormone preparations and other new therapeutics and diagnostics that may increase adult height or aid in the diagnosis of growth hormone deficiency.info:eu-repo/semantics/publishedVersio

Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit

The bacterial Ras-like protein Era has been reported previously to bind 16S rRNA within the 30S ribosomal subunit and to play a crucial role in ribosome assembly. An orthologue of this essential GTPase ERAL1 (Era G-protein-like 1) exists in higher eukaryotes and although its exact molecular function and cellular localization is unknown, its absence has been linked to apoptosis. In the present study we show that human ERAL1 is a mitochondrial protein important for the formation of the 28S small mitoribosomal subunit. We also show that ERAL1 binds in vivo to the rRNA component of the small subunit [12S mt (mitochondrial)-rRNA]. Bacterial Era associates with a 3′ unstructured nonanucleotide immediately downstream of the terminal stem–loop (helix 45) of 16S rRNA. This site contains an AUCA sequence highly conserved across all domains of life, immediately upstream of the anti-Shine–Dalgarno sequence, which is conserved in bacteria. Strikingly, this entire region is absent from 12S mt-rRNA. We have mapped the ERAL1-binding site to a 33 nucleotide section delineating the 3′ terminal stem–loop region of 12S mt-rRNA. This loop contains two adenine residues that are reported to be dimethylated on mitoribosome maturation. Furthermore, and also in contrast with the bacterial orthologue, loss of ERAL1 leads to rapid decay of nascent 12S mt-rRNA, consistent with a role as a mitochondrial RNA chaperone. Finally, whereas depletion of ERAL1 leads to apoptosis, cell death occurs prior to any appreciable loss of mitochondrial protein synthesis or reduction in the stability of mitochondrial mRNA