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Early normal puberty

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https://www.readbyqxmd.com/read/29452377/discordance-in-the-dependence-on-kisspeptin-signaling-in-mini-puberty-vs-adolescent-puberty-human-genetic-evidence
#1
Muhammad Shahab, Margaret Lippincott, Yee-Ming Chan, Addie Davies, Paulina M Merino, Lacey Plummer, Veronica Mericq, Stephanie Seminara
Context: Hypothalamic kisspeptin signaling plays a critical role in the initiation and maintenance of reproductive function. Biallelic mutations in the coding sequence of KISS1R (GPR54) have been identified in patients with idiopathic hypogonadotropic hypogonadism (IHH), but it is unknown whether biallelic variants can also be associated with related reproductive disorders. Case description: A missense homozygous variant (c.890G>T p.R297L) in KISS1R was identified in a child who presented with microphallus and bilateral cryptorchidism...
February 14, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29450569/pharmacogenomics-in-diabetes-outcomes-of-thiamine-therapy-in-trma-syndrome
#2
Abdelhadi M Habeb, Sarah E Flanagan, Mohamed A Zulali, Mohamed A Abdullah, Renata Pomahačová, Veselin Boyadzhiev, Lesby E Colindres, Guillermo V Godoy, Thiruvengadam Vasanthi, Ramlah Al Saif, Aria Setoodeh, Amirreza Haghighi, Alireza Haghighi, Yomna Shaalan, Andrew T Hattersley, Sian Ellard, Elisa De Franco
AIMS/HYPOTHESIS: Diabetes is one of the cardinal features of thiamine-responsive megaloblastic anaemia (TRMA) syndrome. Current knowledge of this rare monogenic diabetes subtype is limited. We investigated the genotype, phenotype and response to thiamine (vitamin B 1 ) in a cohort of individuals with TRMA-related diabetes. METHODS: We studied 32 individuals with biallelic SLC19A2 mutations identified by Sanger or next generation sequencing. Clinical details were collected through a follow-up questionnaire...
February 15, 2018: Diabetologia
https://www.readbyqxmd.com/read/29429771/gonocyte-transformation-in-a-congenitally-cryptorchid-rat-is-normal-and-may-be-similar-to-the-situation-reported-in-human-acquired-cryptorchidism
#3
Moshe Loebenstein, John Hutson, Ruili Li
BACKGROUND: In congenital undescended testis (UDT) in humans, thermal insult damages early germ cell development during mini-puberty (3-6months) causing increased risk of both cancer and infertility. In rodents however, UDT causes infertility but not cancer. In the TS rat with congenital UDT we hypothesized that early germ cell development would be normal as UDT only becomes manifest at 3-4weeks (and the germ cells only become sensitive to thermal injury) after minipuberty is complete at 1week...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29415703/fsh-may-be-a-useful-tool-to-allow-early-diagnosis-of-turner-syndrome
#4
Stela Carpini, Annelise Barreto Carvalho, Sofia Helena Valente de Lemos-Marini, Gil Guerra-Junior, Andréa Trevas Maciel-Guerra
BACKGROUND: Ultrasensitive assays to measure pre-pubertal gonadotropins levels could help identify patients with Turner syndrome (TS) in mid-childhood, but studies in this field are scarce. The aim of this study was to analyze gonadotropins levels in girls with TS throughout childhood. METHODS: Retrospective longitudinal study conducted with 15 girls with TS diagnosed with < 5 years whose FSH and LH measures were available since then. Hormones were evaluated in newborn/mini-puberty (< 0...
February 7, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29353264/response-to-growth-hormone-treatment-in-very-young-patients-with-growth-hormone-deficiencies-and-mini-puberty
#5
Semra Çetinkaya, Şükran Poyrazoğlu, Firdevs Baş, Oya Ercan, Metin Yıldız, Erdal Adal, Abdullah Bereket, Saygın Abalı, Zehra Aycan, Şenay Savaş Erdeve, Merih Berberoğlu, Zeynep Şıklar, Meltem Tayfun, Şükran Darcan, Eda Mengen, İffet Bircan, Filiz Mine Çizmecioğlu Jones, Enver Şimşek, Esra Deniz Papatya, Mehmet Nuri Özbek, Semih Bolu, Ayhan Abacı, Muammer Büyükinan, Feyza Darendeliler
BACKGROUND: The aim of the study was to assess the response to growth hormone (GH) treatment in very young patients with GH deficiency (GHD) through a national, multi-center study. Possible factors affecting growth response were assessed (especially mini-puberty). METHODS: Medical reports of GHD patients in whom treatment was initiated between 0 and 3 years of age were retrospectively evaluated. RESULTS: The cohort numbered 67. The diagnosis age was 12...
January 20, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29300925/progesterone-mediated-inhibition-of-the-gnrh-pulse-generator-differential-sensitivity-as-a-function-of-sleep-status
#6
Su Hee Kim, Jessica A Lundgren, Ruchi Bhabhra, Jessicah S Collins, James T Patrie, Christine M Burt Solorzano, John C Marshall, Christopher R McCartney
Context: During normal early puberty, luteinizing hormone (LH) pulse frequency is low while awake but increases during sleep. Mechanisms underlying such changes are unclear, but a small study in early pubertal girls suggested that differential wake-sleep sensitivity to progesterone negative feedback plays a role. Objective: To test the hypothesis that progesterone acutely reduces waking LH pulse frequency more than sleep-associated pulse frequency in late pubertal girls...
December 28, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29184488/brain-maturation-cognition-and-voice-pattern-in-a-gender-dysphoria-case-under-pubertal-suppression
#7
Maiko A Schneider, Poli M Spritzer, Bianca Machado Borba Soll, Anna M V Fontanari, Marina Carneiro, Fernanda Tovar-Moll, Angelo B Costa, Dhiordan C da Silva, Karine Schwarz, Maurício Anes, Silza Tramontina, Maria I R Lobato
Introduction: Gender dysphoria (GD) (DMS-5) is a condition marked by increasing psychological suffering that accompanies the incongruence between one's experienced or expressed gender and one's assigned gender. Manifestation of GD can be seen early on during childhood and adolescence. During this period, the development of undesirable sexual characteristics marks an acute suffering of being opposite to the sex of birth. Pubertal suppression with gonadotropin releasing hormone analogs (GnRHa) has been proposed for these individuals as a reversible treatment for postponing the pubertal development and attenuating psychological suffering...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/29176028/higher-phthalate-concentrations-are-associated-with-precocious-puberty-in-normal-weight-thai-girls
#8
Khomsak Srilanchakon, Thawiphark Thadsri, Chutima Jantarat, Suriyan Thengyai, Wichit Nosoognoen, Vichit Supornsilchai
BACKGROUND: The cause of precocious puberty may be associated with genetics and other conditions such as central nervous system (CNS) insults, or the exposure to endocrine disrupting chemicals (EDCs). Phthalates is known to be one of the EDCs and have estrogenic and antiandrogenic activities, and may be associated with advanced puberty. The objective of the study was to determine the association between urinary phthalate metabolites and advanced puberty. METHODS: A cross-sectional study was conducted in patients with precocious puberty (breast onset <8 years, n=42) and early puberty (breast onset 8-9 years, n=17), compared to age-matched controls (n=77)...
November 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29163975/on-the-descent-of-the-epididymo-testicular-unit-cryptorchidism-and-prevention-of-infertility
#9
REVIEW
Faruk Hadziselimovic
This comprehensive review provides in-depth coverage of progress made in understanding the molecular mechanisms underlying cryptorchidism, a frequent pathology first described in about 1786 by John Hunter. The first part focuses on the physiology, embryology, and histology of epididymo-testicular descent. In the last 20 years epididymo-testicular descent has become the victim of schematic drawings with an unjustified rejection of valid histological data. This part also includes discussion on the roles of gonadotropin-releasing hormone, fibroblast growth factors, Müllerian inhibiting substance, androgens, inhibin B, and insulin-like 3 in epididymo-testicular descent...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/29131093/metformin-for-rapidly-maturing-girls-with-central-adiposity-less-liver-fat-and-slower-bone-maturation
#10
Francis de Zegher, Cristina García Beltrán, Abel López-Bermejo, Lourdes Ibáñez
BACKGROUND/AIMS: Girls with low-birth weight (LBW) and postnatal weight catch-up tend to develop visceral and hepatic fat excess, which may be accompanied by an upregulated adrenarche with precocious pubarche (PP) and by a rapidly progressive puberty with early menarche and shorter stature. A pilot study suggested that metformin treatment for 4 years reduces central adiposity in LBW-PP girls and normalizes puberty and adult height. In this cohort, we studied the relationship between metformin treatment, bone maturation, and body composition...
November 7, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29118296/mismatch-between-fetal-sexing-and-birth-phenotype-a%C3%A2-case-of-complete-androgen-insensitivity-syndrome
#11
Keisuke Yoshii, Yasuhiro Naiki, Yumiko Terada, Maki Fukami, Reiko Horikawa
With advancing maternal age, the number of prenatal genetic tests is increasing in many countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non-invasive prenatal testing, can disclose fetal chromosomal sex, although these tests were originally designed to prenatally diagnose chromosomal aneuploidies, such as trisomy 21, 18 and 13. Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder caused by an androgen receptor dysfunction leading to hormone resistance...
November 9, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/29101351/programmed-cell-senescence-in-skeleton-during-late-puberty
#12
Changjun Li, Yu Chai, Lei Wang, Bo Gao, Hao Chen, Peisong Gao, Feng-Quan Zhou, Xianghang Luo, Janet L Crane, Bin Yu, Xu Cao, Mei Wan
Mesenchymal stem/progenitor cells (MSPCs) undergo rapid self-renewal and differentiation, contributing to fast skeletal growth during childhood and puberty. It remains unclear whether these cells change their properties during late puberty to young adulthood, when bone growth and accrual decelerate. Here we show that MSPCs in primary spongiosa of long bone in mice at late puberty undergo normal programmed senescence, characterized by loss of nestin expression. MSPC senescence is epigenetically controlled by the polycomb histone methyltransferase enhancer of zeste homolog 2 (Ezh2) and its trimethylation of histone H3 on Lysine 27 (H3K27me3) mark...
November 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/29081501/the-effects-of-muscle-mass-and-muscle-quality-on-cardio-metabolic-risk-in-peripubertal-girls-a-longitudinal-study-from-childhood-to-early-adulthood
#13
S Cheng, P Wiklund
BACKGROUND: Increased cardio-metabolic risk is well documented in children and adolescents with obesity and normal weight obesity. However, the associations of muscle mass and muscle quality with cardio-metabolic risk, independent of weight status from childhood to adulthood, has not been examined. METHODS: 236 girls were followed from pre-puberty to early adulthood. Fat mass and lean mass of the whole body were assessed by a dual-energy X-ray absorptiometry; muscle cross-sectional area, muscle density (skeletal muscle fat content) of the lower leg by the peripheral quantitative computerized tomography (pQCT) and blood glucose, insulin, triglycerides and HDL cholesterol by enzymatic photometric methods...
October 30, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29064384/association-between-obesity-and-puberty-timing-a-systematic-review-and-meta-analysis
#14
REVIEW
Wenyan Li, Qin Liu, Xu Deng, Yiwen Chen, Shudan Liu, Mary Story
This systematic review and meta-analysis examined the associations between obesity and puberty timing based on scientific evidence. Eight electronic databases were searched up to February 2017 for eligible studies, and two reviewers screened the articles and extracted the data independently. A total of 11 cohort studies with 4841 subjects met the inclusion criteria. Compared with the group of normal-weight girls, the obese group had more girls with menarche (RR: 1.87, 95% CI: 1.59-2.19, 2 studies). The number of girls with early puberty was significantly higher in the obese group than the normal weight group (RR: 2...
October 24, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29024822/pubertally-initiated-high-fat-diet-promotes-mammary-tumorigenesis-in-obesity-prone-fvb-mice-similarly-to-obesity-resistant-balb-c-mice
#15
Yirong Zhu, Mark D Aupperlee, Sandra Z Haslam, Richard C Schwartz
Premenopausal breast cancer is associated with increased animal fat consumption among normal-weight but not overweight women. Our previous findings in obesity-resistant BALB/c mice showed that a diet high in saturated animal fat (HFD) promotes mammary tumorigenesis in both DMBA carcinogenesis and Trp53-null transplant models. Having made these observations in BALB/c mice, which have very modest HFD weight gain, we determined the effects of HFD in FVB mice, which gain significant weight on HFD. Three-week-old FVB mice fed a low-fat diet or HFD were subjected to 7,12-dimethylbenz[a]anthracene-induced carcinogenesis...
December 2017: Translational Oncology
https://www.readbyqxmd.com/read/29017168/enhanced-at-puberty-1-eap1-expression-critically-regulates-the-onset-of-puberty-independent-of-hypothalamic-kiss1-expression
#16
Chenxi Li, Pin Li
BACKGROUND/AIMS: Enhance at puberty-1 (Eap1) is an intronless gene that regulates the onset of puberty through a network of hypothalamic genes. However, precise mechanistic events essential for Eap1-regulation of puberty have not been fully elucidated. Eap1 is thought to promote the initiation of puberty through regulation of the hypothalamic metastasis-suppressor KiSS1. We aim to investigate this hypothesis by genetically perturbing Eap1 through RNA interference in vivo. METHODS: We first engineered and optimized four sets of shRNAs that target rat Eap1 mRNA as well as one negative control shRNA...
2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28989027/hyperglycemic-condition-during-puberty-increases-collagen-fibers-deposition-in-the-prostatic-stroma-and-reduces-mmp-2-activity
#17
Sérgio Alexandre Alcantara Dos Santos, Elaine Manoela Porto Amorim, Larissa Mayume Ribeiro, Jaqueline Carvalho Rinaldi, Flávia Karina Delella, Luis Antonio Justulin, Sérgio Luis Felisbino
Puberty is an important period for the growth and maturation of the male reproductive system, and is also a critical window for endocrine or environmental interference. The physiological levels of circulating insulin and hyperglycemic control are important factors for a normal prostate growth. Hyperglycemia during puberty is reported to retard the growth of the prostate gland, with remarkable effects on the epithelial compartment. Here, we investigated the impact of hyperglycemia along with a simultaneous or late insulin replacement on the ventral prostate growth in rats during puberty, paying special attention to the deposition of collagen fibers and activities of gelatinase, matrix metalloproteinase-2 (MMP-2), and -9 (MMP-9)...
December 2, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28988578/alcohol-and-puberty
#18
William L Dees, Jill K Hiney, Vinod K Srivastava
Adolescence represents a vulnerable period for developing youth. Alcohol use and misuse are especially problematic behaviors during this time. Adolescents are more sensitive to alcohol and less tolerant of its detrimental effects than are adults. Research in humans and animals has revealed that early alcohol consumption can result in delayed pubertal development. Animal studies have shown that alcohol detrimentally affects neuroendocrine systems within the hypothalamic region of the brain that are associated with the normal, timely onset of the pubertal process...
2017: Alcohol Research: Current Reviews
https://www.readbyqxmd.com/read/28938419/nocturnal-urinary-excretion-of-fsh-and-lh-in-children-and-adolescents-with-normal-and-early-puberty
#19
Nanna Kolby, Alexander S Busch, Lise Aksglaede, Kaspar Sørensen, Jorgen Holm Petersen, Anna-Maria Andersson, Anders Juul
Context: Clinical use of single serum gonadotropin measurements in children is limited by the pulsatile secretion of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). However, first morning voided (FMV) urine may integrate the fluctuating gonadotropin serum levels. Objective: We aimed to evaluate urinary and serum gonadotropin levels according to age, sex, and pubertal stage in healthy children and to assess the clinical use of FMV urinary gonadotropins in children with disordered puberty...
October 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28926827/one-year-follow-up-of-girls-with-precocious-puberty-and-their-mothers-do-psychological-assessments-change-over-time-or-with-treatment
#20
Melissa J Schoelwer, Kelly L Donahue, Paula Didrick, Erica A Eugster
BACKGROUND: To determine whether psychological characteristics of girls with variations of early puberty and their mothers change over time and with treatment in girls with central precocious puberty (CPP). METHODS: Girls with CPP, premature adrenarche (PA), and early normal puberty (ENP) completed psychological assessments at baseline and after 1 year along with their mothers. All girls with CPP were treated with GnRH analogs. Psychological effects of group and time were examined using 2 × 3 mixed ANOVAs...
2017: Hormone Research in Pædiatrics
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