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Early puberty

Ülkü Gül Şiraz, Deniz Okdemir, Gül Direk, Leyla Akın, Nihal Hatipoğlu, Mustafa Kendırcı, Selim Kurtoğlu
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease has not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. There are around 80 reported patients due to lack of recognition. We present two female patient suspected of ROHHAD due to weight gain since early childhood...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
M McGowan, M K Holland, G Boe-Hansen
This review focuses on current understanding of prenatal, prepubertal and post-pubertal development of the male reproductive system of cattle. The critical developmental events occur during the first 3 to 4 months of gestation and the first ~6 to 9 months after birth. The Wilms Tumor-1 and SRY proteins play critical roles in early development and differentiation of the fetal testis, which in turn drives gestational development of the entire male reproductive system. The hypothalamic-pituitary-gonadal axis matures earlier in the bovine fetus than other domestic species with descent of the testes into the scrotum occurring around the 4th month of gestation...
March 19, 2018: Animal: An International Journal of Animal Bioscience
Friederike Gethöffer, Christiane Pfarrer, Ursula Siebert
Research on reproduction and fertility is an essential fundament of management strategies in European wild boar. Concerning the examination of the reproductive tract, methods still lack conformity and comparability. So far the reproductive status of female wild boar has been assessed by ovarian macroscopic examination. In order to find out if this is a valid method, 21 ovaries of 8-34 months old animals covering (early) follicular phase and cyclic inactivity were evaluated microscopically. Number and dimension of follicles as well as the occurrence of atretic follicles were compared and related to age, weight, ovary weight and size of ovary...
March 2, 2018: Theriogenology
Julia Fernandez Puñal de Araújo, Priscila Lang Podratz, Eduardo Merlo, Isabela Valim Sarmento, Charles Santos da Costa, Oscar Mauricio Santamaria Niño, Rodrigo Alves Faria, Leandro Ceotto Freitas Lima, Jones Bernardes Graceli
Organotin (OTs) compounds are organometallic compounds that are widely used in industry, such as in the manufacture of plastics, pesticides, paints, and others. OTs are released into the environment by anthropogenic actions, leading to contact with aquatic and terrestrial organisms that occur in animal feeding. Although OTs are degraded environmentally, reports have shown the effects of this contamination over the years because it can affect organisms of different trophic levels. OTs act as endocrine-disrupting chemicals (EDCs), which can lead to several abnormalities in organisms...
2018: Frontiers in Endocrinology
Mohammad Reza Dehghani, Mohammad Mehrjardi, Nafi Dilaver, Masoud Tajamolian, Samaneh Enayati, Pirooz Ebrahimi, Mahsa Amoli, Sadaf Farooqi, Reza Maroofian
Congenital Leptin receptor (LEPR) deficiency is a rare genetic cause of early-onset morbid obesity characterised by severe early onset obesity, major hyperphagia, hypogonadotropic hypogonadism and immune and neuroendocrine/metabolic dysfunction. We identified a homozygous loss-of-function mutation, NM_002303.5:c.464 T > G; p.(Tyr155*), in the LEPR in an extended consanguineous family with multiple individuals affected by early-onset severe obesity and hyperphagia. Interestingly, the LEPR-deficient adult females have extremely high body mass index (BMI) with hypogonadal infertility, the BMI of the affected males began to decline around the onset of puberty (13-15 years) with fertility being preserved...
March 12, 2018: European Journal of Medical Genetics
Riittakerttu Kaltiala-Heino, Hannah Bergman, Marja Työläjärvi, Louise Frisén
Increasing numbers of adolescents are seeking treatment at gender identity services in Western countries. An increasingly accepted treatment model that includes puberty suppression with gonadotropin-releasing hormone analogs starting during the early stages of puberty, cross-sex hormonal treatment starting at ~16 years of age and possibly surgical treatments in legal adulthood, is often indicated for adolescents with childhood gender dysphoria (GD) that intensifies during puberty. However, virtually nothing is known regarding adolescent-onset GD, its progression and factors that influence the completion of the developmental tasks of adolescence among young people with GD and/or transgender identity...
2018: Adolescent Health, Medicine and Therapeutics
Tao Ye, Dongliang Sun, Tong Mu, Yi Chu, Hui Miao, Mian Zhang, Hongxu Yang, Qian Liu, Lei Lu, Xianghui Xing, Shibin Yu
The striking predilection of temporomandibular disorders (TMD) in women, especially during gonad-intact puberty or reproductive years, indicates that oestrogen plays an important role in the progression of TMD, but the underlying mechanism remains unclear. In this study, unilateral anterior crossbite (UAC) was used to create temporomandibular joint osteoarthritis (TMJ OA) models in rats, while 17β-estradiol (E2 ) injections were applied to mimic patients with high-physiological levels of oestrogen. Micro-CT scanning, histological staining and real-time PCR assays were preformed to observe the degenerative changes in the mandibular condylar cartilage and subchondral bone...
March 9, 2018: Bone
Y Valcárcel, A Valdehíta, E Becerra, M López de Alda, A Gil, M Gorga, M Petrovic, D Barceló, J M Navas
Endocrine disruptors (EDs) are natural or man-made chemicals that can affect the health of organisms by interfering with their normal hormonal functions. Many of these substances can cause their effects at very low doses and, considering the key role played by the endocrine system on development, organisms in early phases of growth (foetal, childhood, puberty) are especially sensitive to the action of EDs. In addition, when combined, they can show additive, antagonistic and synergistic activities. Taking all this into account it is essential to determine the presence of this kind of compounds in drinking water...
February 22, 2018: Chemosphere
Kristen M Culbert, Elaine B Sinclair, Britny A Hildebrandt, Kelly L Klump, Cheryl L Sisk
Exposure to testosterone early in life may contribute to sex differences and pubertal changes in risk for eating pathology (i.e., females > males, after pubertal onset). Specifically, perinatal testosterone permanently alters brain structure/function and drives the masculinization of several sex-differentiated behaviors. However, the effects of perinatal testosterone are often not evident until puberty when increases in gonadal hormones activate the expression of sex typical behavior, including eating behaviors (e...
February 2018: Journal of Abnormal Psychology
SriDurgaDevi Kolla, Mary Morcos, Brian Martin, Laura N Vandenberg
Throughout life, mammary tissue is strongly influenced by hormones. Scientists have hypothesized that synthetic chemicals with hormonal activities could disrupt mammary gland development and contribute to breast diseases and dysfunction. Bisphenol S (BPS) is an estrogenic compound used in many consumer products. In this study, CD-1 mice were exposed to BPS (2 or 200 μg/kg/day) during pregnancy and lactation. Mice exposed to 0.01 or 1 μg/kg/day ethinyl estradiol (EE2), a pharmaceutical estrogen, were also evaluated...
March 8, 2018: Reproductive Toxicology
C Berthin, P Sibilia, J Martins-Hericher, A Donzeau, L Martin
BACKGROUND: Non-classical congenital adrenal hyperplasia (NC-CAH) is a recessive autosomal disease caused by a deficiency of adrenal steroidogenesis enzymes. It must be distinguished from classical CAH, either simple virilising or salt-wasting, diagnosed during the neonatal period and responsible for potentially lethal disorders of sexual differentiation. NC-CAH presents a simpler and less specific clinical picture. Herein, we present two cases comprising twin girls consulting for diffuse hypertrichosis...
March 7, 2018: Annales de Dermatologie et de Vénéréologie
M-A Sirard, F-X Grand, R Labrecque, C Vigneault, P Blondin
The selection of the best dairy heifers is mainly driven by the genetic value of their parents. The phenotype analysis of cows and of the daughters of bulls has been used to identify the best genetic value for decades before being replaced by genomic selection of individuals that are not yet parents. Because it is possible to predict the future value of an individual by its genetic makeup, it becomes feasible to do it as early as the blastocyst stage and to decide which should be transferred or not. Because we know the genotype of an animal at birth, or even before, it is becoming desirable to reproduce this animal as soon as possible to reduce generation interval and improve selection speed...
March 3, 2018: Journal of Animal Science
John W Honour, E Conway, R Hodkinson, F Lam
The metabolites of cortisol, and the intermediates in the pathways from cholesterol to cortisol and the adrenal sex steroids can be analysed in a single separation of steroids by gas chromatography (GC) coupled to MS to give a urinary steroid profile (USP). Steroids individually and in profile are now commonly measured in plasma by liquid chromatography (LC) coupled with MS/MS. The steroid conjugates in urine can be determined after hydrolysis and derivative formation and for the first time without hydrolysis using GC-MS, GC-MS/MS and liquid chromatography with mass spectrometry (LC-MS/MS)...
February 23, 2018: Journal of Steroid Biochemistry and Molecular Biology
Lin-Yuan Huang, Mark L Wahlqvist, Meei-Shyuan Lee, Po-Huang Chiang
BACKGROUND: Child school performance during puberty may be at increased risk through emotional disturbance. It is hypothesized that this may be mitigated by dietary quality. METHODS: In a nationally representative sample (Nutrition and Health Survey in Taiwan, NAHSIT), 1371 Taiwanese aged 11-16 years, overall competence at school, (OCS) and emotional status have been assessed by teachers with the SAED (Scale for Assessing Emotional Disturbance). Parents provided family socio-demographics and students completed a behavioral and dietary questionnaire (Youth Healthy Eating Index - Taiwan, YHEI-TW)...
February 22, 2018: Nutrition Journal
G Gillessen-Kaesbach, B Albrecht, T Eggermann, M Elbracht, D Mitter, S Morlot, C M A van Ravenswaaij-Arts, S Schulz, G Strobl-Wildemann, K Buiting, J Beygo
Temple syndrome (TS14, #616222) is a rare imprinting disorder characterised by phenotypic features including pre- and postnatal growth retardation, muscular hypotonia and feeding difficulties in infancy, early puberty and short stature with small hands and feet and often truncal obesity. It is caused by maternal uniparental disomies, paternal deletions and primary imprinting defects that affect the chromosomal region 14q32 and lead to a disturbed expression of imprinted genes in this region. Here we present detailed clinical data of eight patients with Temple syndrome, four with an imprinting defect, two with an imprinting defect in a mosaic state as well as one complete and one segmental maternal uniparental disomy of chromosome 14...
February 22, 2018: Clinical Genetics
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
Yongfeng He, Erika Hooker, Eun-Jeong Yu, Huiqing Wu, Gerald R Cunha, Zijie Sun
Androgen signaling is essential for prostate development, morphogenesis, and regeneration. Emerging evidence indicates that Wnt/β-catenin signaling also contributes to prostate development specifically through regulation of cell fate determination. Prostatic Axin2-expressing cells are able to respond to Wnt signals and possess the progenitor properties to regenerate prostatic epithelium. Despite critical roles of both signaling pathways, the biological significance of androgen receptor (AR) in Axin2-expressing Wnt-responsive cells remains largely unexplored...
February 16, 2018: Stem Cells
Vincenzo De Sanctis, Ashraf T Soliman, Mohamed A Yassin, Salvatore Di Maio, Shahina Daar, Heba Elsedfy, Nada Soliman, Christos Kattamis
Failure of pubertal growth, delay or absence of sexual development, infertility and sexual dysfunction due to hypogonadism and defective spermatogenesis are frequent and well recognized disturbances among male patients with transfusion dependent (TD) thalassaemia major (β-thal). These problems are attributed mainly to the damage caused by chronic anaemia and the deposition of excess iron in the pituitary gland and testicles. This is a short review of male pubertal disorders in patients with β-thal written by pediatric endocrinologists and haematologists with an interest and active involvement, in the diagnosis and management of these complications in this group of patients...
February 16, 2018: Acta Bio-medica: Atenei Parmensis
Frances Peterson-Burch, Hiba Abujaradeh, Nicole Charache, Andrea Fischl, Denise Charron-Prochownik
PURPOSE OF REVIEW: Women with diabetes who have unplanned pregnancies and uncontrolled blood sugars are at a higher risk for maternal and fetal morbidities and mortalities. Preconception counseling (PC) has been shown to decrease the risks and improve health outcomes. From 2009 to 2017, the American Diabetes Association has recommended that preconception counseling be given at each clinic visit for all women with diabetes of childbearing age starting at puberty (prior to sexual debut)...
February 15, 2018: Current Diabetes Reports
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 B1 ) 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
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