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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/29426273/testosterone-and-cortisol-secreting-oncocytic-adrenocortical-adenoma-in-the-pediatric-age-group
#2
Maryam K Al Badi, Ibrahim Al-Alwan, Mohammed Al-Dubayee, Ayed Al-Anzi, Maram S Al Turki, Noura Aloudah, Khaled O Alsaad
Oncocytic tumors are epithelial neoplasms that occur in various organs, including adrenal glands. Oncocytic adrenocortical adenomas and carcinomas are uncommon but well-known pathological entities in adults. However, generally oncocytic tumors, particularly in the adrenal glands, are very rare in the pediatric age-group. Most oncocytic adrenal tumors are not functional. We present a rare case of right-sided, functional oncocytic adrenocortical adenoma in a 5-year-old boy, who presented with clinical manifestations of precocious puberty and Cushing syndrome...
January 1, 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29425110/a-japanese-patient-with-congenital-central-hypothyroidism-caused-by-a-novel-igsf1-mutation
#3
Takeshi Yamaguchi, Tomoyuki Hothubo, Shuntaro Morikawa, Akie Nakamura, Toshihiko Mori, Toshihiro Tajima
BACKGROUND: IGSF1 abnormality causes diverse symptoms, including congenital central hypothyroidism (CCH), prolactin hyposecretion, testicular enlargement and delayed puberty. CASE PRESENTATION: Here, we report a case of a male patient who visited our hospital with a chief complaint of abdominal pain and short stature, in whom we identified a novel IGSF1 mutation. He was closely examined because of chronic constipation since infancy, persistent abdominal pain at 14 years of age and marked short stature (-4...
February 9, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29403152/adrenocortical-carcinoma-characterized-by-gynecomastia-a-case-report
#4
Takako Takeuchi, Yuko Yoto, Akira Ishii, Takeshi Tsugawa, Masaki Yamamoto, Tsukasa Hori, Hotaka Kamasaki, Kazutaka Nogami, Takanori Oda, Akihiro Nui, Sachiko Kimura, Takuya Yamagishi, Keiko Homma, Tomonobu Hasegawa, Maki Fukami, Yoko Watanabe, Hidehiko Sasamoto, Hiroyuki Tsutsumi
We present a 4-yr-old boy with adrenocortical carcinoma (ACC), diagnosed due to the appearance of gynecomastia as the presenting symptom. Six months prior to admission, an acute growth spurt along with the development of bilateral breast swelling was observed. He did not present any features of virilization, including enlargement of the testes, increase in testis volume, and penis size. Laboratory investigations showed gonadotropin-independent hypergonadism, with low LH/ FSH levels and elevated estradiol/testosterone levels...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29385433/sexual-dimorphism-and-the-origins-of-human-spinal-health
#5
Vicente Gilsanz, Tishya A L Wren, Skorn Ponrartana, Stefano Mora, Clifford J Rosen
Recent observations indicate that the cross-sectional area (CSA) of vertebral bodies are on average 10% smaller in healthy newborn girls than in newborn boys - a striking difference that increases during infancy and puberty, and is greatest by the time of sexual and skeletal maturity. The smaller vertebral CSA in females is associated with greater spinal flexibility, and could represent the human adaptation to fetal load in bipedal posture. Unfortunately, it also imparts a mechanical disadvantage that increases stress within the vertebrae for all physical activities...
January 29, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29374901/-association-between-rs10938397-polymorphism-in-gnpda2-and-obesity-in-children-at-different-stages-of-development
#6
L W Gao, M X Zhang, L J Wu, L W Fu, X Y Zhao, J Mi
Objective: To examine the association between rs10938397 polymorphism in glucosamine-6-phosphate deaminase 2 (GNPDA2) and risk of obesity in children at different stages of development and analyze the differences in the association. Methods: A total of 3 503 school-aged children were selected from the Beijing Child and Adolescent Metabolic Syndrome (BCAMS) study in Beijing and their complete anthropometry weight, height, fat mass percentage (FMP), fat mass index (FMI) and free fat mass index (FFMI) and sexual maturation (SM) data were used...
January 10, 2018: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/29367056/histamine-h4-receptor-as-a-novel-therapeutic-target-for-the-treatment-of-leydig-cell-tumours-in-prepubertal-boys
#7
Adriana María Belén Abiuso, María Luisa Varela, Luis Haro Durand, Marcos Besio Moreno, Alejandra Marcos, Roberto Ponzio, Marco Aurelio Rivarola, Alicia Belgorosky, Omar Pedro Pignataro, Esperanza Berensztein, Carolina Mondillo
Leydig-cell tumours (LCTs) are rare endocrine tumours of the testicular interstitium, with recent increased incidence. Symptoms include precocious puberty in children; and erectile dysfunction, infertility and/or gynaecomastia, in adults. So far, scientific evidence points to aromatase (CYP19) overexpression and excessive oestrogen and insulin-like growth factor (IGF) -1 production as responsible for Leydig-cell tumourigenesis. LCTs are usually benign; however, malignant LCTs respond poorly to chemo/radiotherapy, highlighting the need to identify novel targets for treatment...
January 19, 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/29353265/growth-sexual-and-bone-development-in-a-boy-with-bilateral-anorchia-under-testosterone-treatment-guided-by-the-development-of-his-monozygotic-twin
#8
Sara Vandewalle, Eva Van Caenegem, Margarita Craen, Youri Taes, Jean-Marc Kaufman, Guy T'Sjoen
BACKGROUND: Sex steroids are essential for sexual maturation, linear growth and bone development. However, there is no consensus on the optimal timing, dosage and dosage interval of testosterone therapy to induce pubertal development and achieve a normal adult height and bone mass in children with hypogonadism. CASE PRESENTATION: A monozygotic monochorial male twin pair, of which one boy was diagnosed with anorchia at birth due to testicular regression syndrome was followed from the age of 3 until the age of 18 years...
January 20, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29344033/investigating-the-prevalence-of-low-bone-mass-in-children-of-southern-iran-and-its-associated-factors
#9
Forough Saki, Gholamhossein Ranjbar Omrani, Marjan Jeddi, Marzie Bakhshaieshkaram, Mohammad Hossein Dabbaghmanesh
Background: Improving peak bone mass and bone strength in the first years of life and enhancing it during young adulthood could prevent osteoporosis and fractures in the last years of life. We evaluated the prevalence of low bone mass in the lumbar and femoral neck and its associated factors in southern Iranian children. Methods: This is a cross-sectional study on healthy Iranian children aged 9 - 18 years old during 2011 - 2012. Dual energy X-ray absorptiometry (DEXA) was used for measuring bone mineral density (BMD)...
October 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29341246/risk-factors-for-disordered-weight-control-behaviors-among-korean-adolescents-multilevel-analysis-of-the-korea-youth-risk-behavior-survey
#10
Yongjoo Kim, S Bryn Austin, S V Subramanian, Jennifer J Thomas, Kamryn T Eddy, Debra L Franko, Rachel F Rodgers, Ichiro Kawachi
OBJECTIVE: To investigate the prevalence and risk factors for disordered weight control behaviors (DWCB) in South Korean adolescents at multiple levels, including individual, family, school, and geographic area. METHOD: We drew participants from the 11th Korea Youth Risk Behavior Web-based Survey, conducted in 2015, with 65,529 adolescents (31,687 girls, 33,842 boys) aged 12-18 years. DWCB was defined as engaging in any of the following behaviors for weight control over the past month: fasting, one-food diet (eating only one food over an extended period of time for weight control), vomiting, and taking laxatives/diuretics/unprescribed diet pills...
January 17, 2018: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/29330018/testicular-adrenal-rest-tumor-screening-and-fertility-counseling-among-males-with-congenital-adrenal-hyperplasia
#11
Monika Chaudhari, Emilie K Johnson, Daniel DaJusta, Leena Nahata
BACKGROUND: Reduced fertility is a common potential problem among males with congenital adrenal hyperplasia (CAH), with nearly half experiencing impaired sperm production. The major cause of oligo/azoospermia in CAH is testicular adrenal rest tumors (TARTs). Studies indicate that ultrasound screening for TARTs should begin during childhood, yet it remains unclear whether boys with CAH are routinely screened for TARTs and/or counseled about infertility risk and potential interventions such as fertility testing and/or preservation...
December 21, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29323690/premature-adrenarche
#12
Laura Novello, Phyllis W Speiser
Adrenarche is when a child's adrenal cortex starts to secrete adrenal androgen precursors. Dehydroepiandrosterone (DHEA) is the most abundant product of the adrenal cortex, and is a weak androgen agonist thought to be responsible for the clinical signs of pubarche by conversion to more potent androgens, testosterone, and dihydrotestosterone. DHEA's extra-adrenal sulfation product, dehydroepiandrosterone sulfate, is a stable marker for adrenal androgenic activity. Pubarche is the physical manifestation of androgenic hormone production, and includes the development of pubic and axillary hair, adult body odor, and acne...
January 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29321542/timing-of-spermarche-and-menarche-among-urban-students-in-guangzhou-china-trends-from-2005-to-2012-and-association-with-obesity
#13
Yusheng Deng, Jianping Liang, Yinan Zong, Ping Yu, Runsheng Xie, Yangfeng Guo, Zhen Wang, Nali Deng, Yanhui Gao, Yi Jiang, Yi Yang, Jiewen Yang, Li Liu
In Guangzhou, China, whether the trend of a decreasing pubertal age has continued in recent years remained unknown, and the association between obesity and early puberty was still controversial. Herein, we conducted a serial cross-sectional study using data from physical fitness surveillance (2005-2012), to determine the recent trends in age at spermarche and menarche among students in Guangzhou, and to investigate whether elevated BMI modified timing of spermarche and menarche. This study included 1,278,258 urban students...
January 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29309847/longitudinal-changes-in-bone-testis-axis-and-their-associations-with-insulin-resistance-in-11-to-12-year-old-boys
#14
Jaak Jürimäe, Evelin Lätt, Liina Remmel, Priit Purge, Vallo Tillmann
PURPOSE: Associations between osteocalcin (OCN), an osteoblast-specific hormone, and different markers of energy metabolism and insulin resistance have been reported in adults, but few studies have investigated this in children. The aim of the current study was to investigate serum OCN levels during pubertal development in normal weight (NW) and overweight (OW) boys, and to evaluate possible associations of OCN with body composition, testosterone, insulin resistance and adipocytokine values during puberty...
January 5, 2018: Bone
https://www.readbyqxmd.com/read/29275169/testosterone-induces-hyporesponsiveness-by-interfering-with-ip3-receptors-in-guinea-pig-airway-smooth-muscle
#15
Luis M Montaño, Edgar Flores-Soto, Jorge Reyes-García, Verónica Díaz-Hernández, Abril Carbajal-García, Elías Campuzano-González, G Lizbeth Ramírez-Salinas, Marco A Velasco-Velázquez, Bettina Sommer
Asthma symptoms have been associated with sex steroids. During childhood, this illness seems more frequent in boys than in girls and this tendency reverts in puberty when it is more severe in women. Testosterone (TES), at supraphysiological concentrations, relaxed pre-contracted airway smooth muscle, but its effects at physiological concentrations have not been thoroughly studied. We explored this possibility in guinea pig tracheal smooth muscle. In myocytes TES (10 nM) abolished carbachol (CCh)-induced intracellular Ca2+ concentration ([Ca2+]i) increment...
December 21, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29238730/interaction-of-pubertal-development-and-metabolic-control-in-adolescents-with-type-1-diabetes-mellitus
#16
M Plamper, B Gohlke, J Woelfle, K Konrad, T Rohrer, S Hofer, W Bonfig, K Fink, R W Holl
Background: In T1DM, delayed pubertal development and reduced final height are associated with inadequate metabolic control. Objective: To assess whether T1DM affects pubertal growth spurt and whether metabolic control during puberty is gender-related. Methods: Using a large multicentre database, longitudinal data from 1294 patients were analysed. Inclusion criteria: complete records of height and HbA1c from the age of seven to 16 years. Exclusion criteria: other significant chronic diseases and medications, T1DM duration less than three months, and initial BMI < 3rd or >97th percentile...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/29222425/polymorphisms-in-jmjd1c-are-associated-with-pubertal-onset-in-boys-and-reproductive-function-in-men
#17
Nina Mørup, Alexander Siegfried Busch, Anne Kirstine Bang, Loa Nordkap, John E Nielsen, Ewa Rajpert-De Meyts, Anders Juul, Niels Jørgensen, Kristian Almstrup
JMJD1C, a member of the Jumonji-domain containing histone demethylases protein family, has been associated with levels of sex-hormone binding globulin (SHBG) and testosterone in men, and knock-out rodent models show age-dependent infertility. The objective of this study was to investigate whether single nucleotide polymorphisms (SNPs) nearby JMJD1C are associated with pubertal onset in boys and with male reproduction. 671 peri-pubertal boys, 1,027 young men, 315 fertile men, and 252 infertile men were genotyped for two JMJD1C SNPs (rs7910927 and rs10822184)...
December 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29216895/-we-do-not-know-a-qualitative-study-exploring-boys-perceptions-of-menstruation-in-india
#18
Linda Mason, Muthusamy Sivakami, Harshad Thakur, Narendra Kakade, Ashley Beauman, Kelly T Alexander, Anna Maria van Eijke, Kayla F Laserson, Mamita B Thakkar, Penelope A Phillips-Howard
BACKGROUND: In low-middle income countries and other areas of poverty, menstrual hygiene management (MHM) can be problematic for women and girls. Issues include lack of knowledge about menstruation and MHM, and stigma around menstruation, also access to affordable and absorbent materials; privacy to change; adequate washing, cleaning and drying facilities; as well as appropriate and accessible disposal facilities. In order to effect change and tackle these issues, particularly in patriarchal societies, males may need to become advocates for MHM alongside women...
December 8, 2017: Reproductive Health
https://www.readbyqxmd.com/read/29213166/precocious-puberty-an-experience-from-a-major-teaching-hospital-in-central-saudi-arabia
#19
Huda A Osman, Nasir A M Al-Jurayyan, Amir M I Babiker, Hessah M N Al-Otaibi, Reem D H AlKhalifah, Sharifah D A Al Issa, Sarar Mohamed
Precocious puberty is a developmental process that gives rise to secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. In general, precocious puberty can be classified as central or peripheral. This is a retrospective hospital-based study was conducted at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia, during the period January 1990 and December 2016. Data were abstracted from the medical records of patients diagnosed with precocious puberty, with special emphasis on age, sex, clinical characteristics, and relevant hormonal assay...
2017: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/29201068/gender-identity-in-patients-with-congenital-adrenal-hyperplasia
#20
Maryam Razzaghy-Azar, Sakineh Karimi, Elham Shirazi
Background: Sex assignment in infancy for patients with disorder of sex development (DSD) is a challenging problem. Some of the patients with congenital adrenal hyperplasia (CAH) have DSD that may affect their gender identity. Objectives: The study aimed to assess gender identity in patients with CAH. Methods: In this study, 52 patients with CAH, including 22 prepubertal children and 30 adolescents and adults, were assessed using two separate gender identity questionnaires for children and adults based on the criteria of diagnostic and statistical manual of mental disorders, 5th edition...
July 2017: International Journal of Endocrinology and Metabolism
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