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https://www.readbyqxmd.com/read/29155850/pre-pubertal-exposure-with-phthalates-and-bisphenol-a-and-pubertal-development
#1
Monika Kasper-Sonnenberg, Jürgen Wittsiepe, Katharina Wald, Holger M Koch, Michael Wilhelm
OBJECTIVE: Epidemiological studies indicate associations between childhood exposure with phthalates and bisphenol A (BPA) and the pubertal development. We examined associations between the pre-pubertal phthalate and BPA body burden and the longitudinally assessed sexual maturation of eight- to thirteen-year-old children. METHODS: We started with eight- to ten-year-old children in the baseline study and quantified phthalate metabolites and BPA in 472 urine samples (250 boys; 222 girls; mean age: 8...
2017: PloS One
https://www.readbyqxmd.com/read/29144824/17%C3%AE-hydroxylase-deficiency-is-an-underdiagnosed-disease-high-frequency-of-misdiagnoses-in-a-large-cohort-of-brazilian-patients
#2
Rafaela Fontenele, Marivânia Costa-Santos, Claudio E Kater
OBJECTIVE: 17α-Hydroxylase deficiency (P450c17D) is characterized by hypogonadism and mineralocorticoid hypertension. We aimed to estimate the relative incidence and spectrum of preliminary misdiagnoses in Brazilian P450c17D patients. DESIGN: Cross-sectional study. METHODS: We reviewed, updated, and analyzed data of 40 P450c17D patients (21 XY, 19 XX). RESULTS: Complete data were unavailable for two patients. Seven patients were relatives of an index case...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29142169/the-effects-of-ethylene-glycol-monomethyl-ether-on-female-reproductive-system-in-juvenile-rats
#3
Yoshikazu Taketa, Hiroshi Mineshima, Etsuko Ohta, Kyoko Nakano-Ito
Ethylene glycol monomethyl ether (EGME), which is widely used in various industrial products, is known for adverse effects on the reproductive system in adult rats. However, the effects of EGME on reproductive development in juvenile rats have not been demonstrated. In order to investigate the effects of EGME on the female reproductive system and pubertal development in juvenile rats, EGME was administered to female Sprague Dawley rats from postnatal day 21 to 41 at a dose level of 0, 50, 100, or 300 mg/kg...
2017: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/29141178/peri-conception-and-first-trimester-diet-modifies-reproductive-development-in-bulls
#4
K J Copping, M D Ruiz-Diaz, C S Rutland, N P Mongan, M J Callaghan, I C McMillen, R J Rodgers, V E A Perry
Nutritional perturbation during gestation alters male reproductive development in rodents and sheep. In cattle both the developmental trajectory of the feto-placental unit and its response to dietary perturbations is dissimilar to that of these species. This study examined the effects of dietary protein perturbation during the peri-conception and first trimester periods upon reproductive development in bulls. Nulliparous heifers (n=360) were individually fed a high- or low-protein diet (HPeri and LPeri) from 60 days before conception...
November 16, 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/29135489/endocrine-disrupters-and-pubertal-timing
#5
Louise C Greenspan, Mary M Lee
PURPOSE OF REVIEW: The current review summarizes recent epidemiologic data demonstrating the effects of endocrine disrupting compounds (EDCs) on the timing of puberty and highlights the complexity of understanding the interplay of environmental and genetic factors on pubertal timing. RECENT FINDINGS: In girls, there have been mixed results, with some exposures being associated with earlier timing of puberty, and some with later puberty. In boys, prepubertal exposures to nondioxin-like polychlorinated biphenyls accelerate puberty, whereas levels of insecticides, dioxin-like compounds, organochlorine pesticides, and lead delay puberty...
November 11, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29131362/sex-discordance-identification-following-non-invasive-prenatal-testing
#6
Ebony J Richardson, Fergus P Scott, Andrew C McLennan
OBJECTIVE: To characterize genotype-phenotype discordance identified in the routine clinical setting, and explore the associated diagnostic and counseling challenges. METHOD: Cases were derived from a cohort of pregnant women who attended a multi-site specialist prenatal screening and ultrasound service for non-invasive prenatal testing by cell-free DNA analysis and mid-trimester fetal morphology assessment. RESULTS: Seven cases of genotype-phenotype discordance were identified from a cohort of 12,919 women between June 2013 - March 2017 (incidence 1/1845 pregnancies)...
November 13, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29127766/etiologies-of-short-stature-in-a-pediatric-endocrine-clinic-in-southern-thailand
#7
Tansit Saengkaew, Edward McNeil, Somchit Jaruratanasirikul
BACKGROUND: Short stature is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of short stature vary and are commonly grouped into pathological and non-pathological disorders. The objective of the study was to determine the etiologies and describe the characteristics of short stature patients who attended the Pediatric Endocrinology Clinic and to compare factors between normal variant short stature (NVSS) and growth hormone deficiency (GHD)...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29125519/advanced-skeletal-maturity-in-children-and-adolescents-with-myelomeningocele
#8
Ronald Roiz, Nicole M Mueske, Alexander Van Speybroeck, Deirdre D Ryan, Vicente Gilsanz, Tishya A L Wren
PURPOSE: Atypical skeletal development is common in youth with myelomeningocele (MM), though the underlying reasons have not been fully elucidated. This study assessed skeletal maturity in children and adolescents with MM and examined the effects of sex, age, sexual development, ethnicity, anthropometrics and shunt status. METHODS: Forty-three males and 35 females with MM, 6-16 years old, underwent hand radiographs for bone age determination. The difference between bone age and chronological age was evaluated using Wilcoxon sign rank tests...
October 20, 2017: Journal of Pediatric Rehabilitation Medicine
https://www.readbyqxmd.com/read/29108899/kallmann-syndrome-phenotype-and-genotype-of-hypogonadotropic-hypogonadism
#9
M I Stamou, N A Georgopoulos
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a genetically and clinically heterogeneous disorder. Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD genes are shown to interact with each other in an oligogenic manner. In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes"...
November 3, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29102298/orchidopexy-in-children-with-prader-willi-syndrome-results-of-a-long-term-follow-up-study
#10
Maurizio Pacilli, Yves Heloury, Mike O'Brien, Tess Lionti, Margaret Rowell, John Hutson
INTRODUCTION: Prader-Willi syndrome (PWS) is a rare (1:20.000) genetic condition affecting both males and females. Among other features, in boys, the syndrome is characterized by cryptorchidism in 86-100% of cases, hypogonadism, delayed puberty and infertility. The aim of the present study is to appraise the results of orchidopexy in this selected population of children. STUDY DESIGN: A follow-up study of children with PWS treated for undescended testes at a single institution over a 20-year period was performed...
October 16, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29098175/inhibiting-production-of-new-brain-cells-during-puberty-or-adulthood-blunts-the-hormonally-induced-surge-of-luteinizing-hormone-in-female-rats
#11
Margaret A Mohr, Lydia L DonCarlos, Cheryl L Sisk
New cells are added during both puberty and adulthood to hypothalamic regions that govern reproduction, homeostasis, and social behaviors, yet the functions of these late-born cells remain elusive. Here, we pharmacologically inhibited cell proliferation in ventricular zones during puberty or in adulthood and determined subsequent effects on the hormone-induced surge of luteinizing hormone (LH) in female rats. Initial neuroanatomical analyses focused on verifying incorporation, activation, and pharmacological inhibition of pubertally or adult born cells in the anteroventral periventricular nucleus (AVPV) of the hypothalamus because of the essential role of the AVPV in triggering the preovulatory LH surge in females...
September 2017: ENeuro
https://www.readbyqxmd.com/read/29094886/puberty-early-and-delayed
#12
(no author information available yet)
No abstract text is available yet for this article.
November 1, 2017: American Family Physician
https://www.readbyqxmd.com/read/29094880/disorders-of-puberty-an-approach-to-diagnosis-and-management
#13
David A Klein, Jill E Emerick, Jillian E Sylvester, Karen S Vogt
Disorders of puberty can profoundly impact physical and psychosocial well-being. Precocious puberty is pubertal onset before eight years of age in girls and before nine years of age in boys. Patients with early isolated pubertal changes, prepubertal linear growth, and no worrisome neurologic symptoms typically have a benign pattern of development and should be monitored in the appropriate clinical context. Among patients with true precocious puberty, or full activation of the hypothalamic-pituitary-gonadal axis, most girls have an idiopathic etiology, whereas it is commonly due to identifiable pathology on imaging in boys...
November 1, 2017: American Family Physician
https://www.readbyqxmd.com/read/29072404/knowledge-and-perceptions-of-common-breast-cancer-risk-factors-in-northern-saudi-arabia
#14
Ali Ghannam Alrashidi, Hussain Gadelkarim Ahmed, Kalaf Jaze Kalaf Alshammeri, Sami Awejan Alrashedi, Bassam Ahmed ALmutlaq, Fayez Nashi Motlaq Alshammari, Abdulaziz Abdulrahman Hamad Alshudayyid, Abdulrahman Ayed Jazza Alshammari, Fahad Mohammed Samran Anazi, Wasmiah Marzouq Alshammari, Hamdan Sulaiman Ayed Alshammari, Eid Fahad Habeeb Alshammari
Background: Breast cancer is the second leading cause of cancer death in women around the world. The degree of adoption of a preventive lifestyle offers valuable information for planning appropriate intervention programs for improving women’s health. The objective of the present study was to assess the levels of breast cancer related knowledge among a Northern Saudi population. Methodology: In this cross sectional study, data were obtained from 566 Saudi volunteers living in the city of Hail, the Kingdom of Saudi Arabia (KSA)...
October 26, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/29068475/genetically-determined-later-puberty-impacts-lowered-bone-mineral-density-in-childhood-and-adulthood
#15
Diana L Cousminer, Jonathan A Mitchell, Alessandra Chesi, Sani M Roy, Heidi J Kalkwarf, Joan M Lappe, Vicente Gilsanz, Sharon E Oberfield, John A Shepherd, Andrea Kelly, Shana E McCormack, Benjamin F Voight, Babette S Zemel, Struan Fa Grant
Later puberty associates with lower areal bone mineral density (aBMD), and both are risk factors for osteoporosis. However, the association between puberty timing-associated genetic variants and aBMD during development, and the causal relationship between puberty timing and aBMD, remain uncharacterized. We constructed sex-specific polygenic risk scores (GRS) consisting of 333 genetic variants associated with later puberty in European-descent children in the Bone Mineral Density in Childhood Study (BMDCS), consisting of a longitudinal cohort with up to seven assessments (n = 933) and a cross-sectional cohort (n = 486)...
October 25, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29040622/neurokinin-b-regulates-gonadotropin-secretion-ovarian-follicle-growth-and-the-timing-of-ovulation-in-healthy-women
#16
Karolina Skorupskaite, Jyothis T George, Johannes D Veldhuis, Richard A Anderson
Context: Neurokinin B (NKB) is obligate for human puberty, but its role in adult female gonadotropin secretion and ovarian follicle growth is unknown. Objective: To investigate antagonism of NKB on pulsatile GnRH/LH secretion and ovarian follicle development in normal women. Design: Open investigation of the effects of a neurokinin-3 receptor antagonist (NK3Ra) vs no treatment control cycle. Setting: Clinical Research Facility...
October 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29038330/can-growth-hormone-treatment-improve-growth-in-children-with-severe-growth-failure-due-to-anorexia-nervosa-a-preliminary-pilot-study
#17
Juliane Léger, Anne Fjellestad-Paulsen, Anne Bargiacchi, Catherine Doyen, Emmanuel Ecosse, Jean-Claude Carel, Marie-France Le Heuzey
BACKGROUND/AIMS: Growth failure is a difficult but key aspect of care in children with anorexia nervosa (AN). The effects of hGH therapy have not been studied. The aim was to investigate the effect of hGH treatment on height velocity (HV) in children with AN. METHODS: We carried out a retrospective observational study. Ten girls diagnosed with AN at 10.0 ± 1.9 years, with prolonged severe growth failure (HV < 2.5 cm/year for at least 18 months) at the age of 13...
November 2017: Endocrine Connections
https://www.readbyqxmd.com/read/29025208/an-atypical-case-of-noonan-syndrome-with-kras-mutation-diagnosed-by-targeted-exome-sequencing
#18
Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and genetic heterogeneity, the conventional diagnostic protocol with Sanger sequencing requires a multistep approach. Therefore, molecular genetic diagnosis using targeted exome sequencing (TES) is considered a less expensive and faster method, particularly for patients who do not fulfill the clinical diagnostic criteria of NS...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29024203/megestrol-acetate-caused-adrenal-insufficiency-and-delayed-puberty-in-a-male-adolescent-with-spinal-tumour
#19
Chutima Leelalertlauw, Pat Mahachoklertwattana, Suradej Hongeng, Preamrudee Poomthavorn
No abstract text is available yet for this article.
October 12, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29017168/enhanced-at-puberty-1-eap1-expression-critically-regulates-the-onset-of-puberty-independent-of-hypothalamic-kiss1-expression
#20
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
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