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Late Puberty

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https://www.readbyqxmd.com/read/28284037/a-novel-dax-1-mutation-in-two-male-siblings-presenting-with-precocious-puberty-and-late-onset-hypogonadotropic-hypogonadism
#1
Yanxia Liu, Jinlei Yuan, Huijuan Zhang, Yanyan Jiang, Guijun Qin
Background The DAX-1 gene is associated with X-linked adrenal hypoplasia congenita (AHC). Our objective was to compare the DAX-1 gene sequence of two male siblings exhibiting different clinical manifestations of AHC. Methods Clinical features were analyzed and laboratory data were collected from both siblings. Genomic DNA was extracted from the peripheral blood leukocytes of the siblings and their parents and the DAX-1 gene exons and intron-flanking regions were amplified by the polymerase chain reaction. The DAX-1 gene sequences were compared following sequencing...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28237342/changes-of-plasma-concentrations-of-insulin-like-peptide-3-and-testosterone-and-their-association-with-scrotal-circumference-during-pubertal-development-in-male-goats
#2
M A Hannan, N Kawate, Y Fukami, W W P N Weerakoon, E E Büllesbach, T Inaba, H Tamada
Insulin-like peptide 3 (INSL3) has been used as a testis-specific biomarker for puberty in several species, but the secretory profile of INSL3 during pubertal development in small ruminants is unknown. Here we sought to determine the age-related changes in the plasma concentrations of INSL3 and testosterone and their association with scrotal circumference during pubertal development in five male Shiba goats. Blood samples and scrotal circumference measurement were taken every 2 weeks from week 10 to week 52 of each goat's lifespan...
April 1, 2017: Theriogenology
https://www.readbyqxmd.com/read/28210658/patellar-maltracking-persists-in-adolescent-females-with-patellofemoral-pain-a-longitudinal-study
#3
Victor R Carlson, Barry P Boden, Aricia Shen, Jennifer N Jackson, Katharine E Alter, Frances T Sheehan
BACKGROUND: Patellofemoral pain is one of the most common conditions seen in sports medicine practices, particularly among adolescent females. However, the natural history of the underlying pathology in patellofemoral pain during puberty remains poorly understood. PURPOSE: The purpose of this longitudinal study is to assess changes in patellar maltracking patterns in subjects with patellofemoral pain as they mature from mid- to late adolescence. STUDY DESIGN: Cohort study; Level of evidence, 3...
February 2017: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/28207416/are-aromatase-inhibitors-in-boys-with-predicted-short-stature-and-or-rapidly-advancing-bone-age-effective-and-safe
#4
Jessica A Ferris, Mitchell E Geffner
BACKGROUND: The aim of this study was to assess aromatase inhibitor (AI) efficacy in increasing predicted adult height (PAH) and to describe clinical and biochemical safety profiles of AI-treated boys. METHODS: A retrospective chart review was conducted at an academic children's hospital endocrinology clinic. Twenty-one boys with predicted short stature and/or rapidly advancing bone age, divided as Tanner stage (TS) I-III Group 1 (G1, n=9) and TS IV-V Group 2 (G2, n=12), were treated with AIs, either letrozole or anastrozole (mean duration, G1: 2...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28161230/-slipped-capital-femoral-epiphysis
#5
C Klein, E Haraux, J Leroux, R Gouron
Slipped capital femoral epiphysis (SFCE) is a disorder of the hip, characterized by a displacement of the capital femoral epiphysis from the metaphysic through the femoral growth plate. The epiphysis slips posteriorly and inferiorly. SCFE occurs during puberty and metabolic and epidemiologic risk factors, such as obesity are frequently found. Most chronic slips are diagnosed late. Sagittal hip X-rays show epiphysis slip. In case of untreated SCFE, a slip progression arises with an acute slip risk. Treatment is indicated to prevent slip worsening...
February 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28126912/growth-hormone-with-aromatase-inhibitor-may-improve-height-in-cyp11b1-congenital-adrenal-hyperplasia
#6
Katherine Hawton, Sandra Walton-Betancourth, Gill Rumsby, Joseph Raine, Mehul Dattani
With an estimated prevalence of 1 in 100 000 births, 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in CYP11B1 Clinical features include virilization, early gonadotropin-independent precocious puberty, hypertension, and reduced stature. The current mainstay of management is with glucocorticoids to replace deficient steroids and to minimize adrenal sex hormone overproduction, thus preventing virilization and optimizing growth. We report a patient with CAH who had been suboptimally treated and presented to us at 6 years of age with precocious puberty, hypertension, tall stature, advanced bone age, and a predicted final height of 150 cm...
February 2017: Pediatrics
https://www.readbyqxmd.com/read/28120214/characterization-of-kiss2-and-kissr2-genes-and-the-regulation-of-kisspeptin-on-the-hpg-axis-in-cynoglossus-semilaevis
#7
Huayu Song, Mengxun Wang, Zhongkai Wang, Jinxiang Liu, Jie Qi, Quanqi Zhang
Reproduction allows organisms to produce offspring. Animals shift from immature juveniles into mature adults and become capable of sexual reproduction during puberty, which culminates in the first spermiation and sperm hydration or ovulation. Reproduction is closely related to the precise control of the hypothalamic-pituitary-gonadal (HPG) axis. Kisspeptin peptides are considered as the important regulator of HPG axis in mammalian. However, the current understanding of kisspeptin in flatfish is not comprehensive...
December 24, 2016: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/28089368/the-transition-from-pediatric-to-adult-care-for-youth-with-epilepsy-basic-biological-sociological-and-psychological-issues
#8
REVIEW
Peter Camfield, Carol Camfield, Kanetee Busiah, David Cohen, Alison Pack, Rima Nabbout
Transition from pediatric to adult health care for adolescents with epilepsy is challenging for the patient, family, and health care workers. This paper is the first of three that summarize the main findings from the 2nd Symposium on Transition in Epilepsies, held in Paris from June 14-25, 2016. In this paper we describe five basic themes that have an important effect on transition. First, there are important brain changes in adolescence that leave an imbalance between risk taking and pleasure seeking behaviors and frontal executive function compared with adults...
January 12, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27997334/ontogeny-of-clock-and-kiss-1-metastasis-suppressor-kiss1-gene-expression-in-the-prepubertal-mouse-hypothalamus
#9
Cassandra C Yap, Peter J Mark, Brendan J Waddell, Jeremy T Smith
Kisspeptin is crucial for the generation of the circadian-gated preovulatory gonadotrophin-releasing hormone (GnRH)-LH surge in female rodents, with expression in the anteroventral periventricular nucleus (AVPV) peaking in the late afternoon of pro-oestrus. Given kisspeptin expression is established before puberty, the aim of the present study was to investigate kisspeptin and clock gene rhythms during the neonatal period. Anterior and posterior hypothalami were collected from C57BL/6J mice on Postnatal Days (P) 5, 15 and 25, at six time points across 24h, for analysis of gene expression by reverse transcription-quantitative polymerase chain reaction...
December 21, 2016: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/27979788/multivariate-dynamical-modelling-of-structural-change-during-development
#10
Gabriel Ziegler, Gerard R Ridgway, Sarah-Jayne Blakemore, John Ashburner, Will Penny
Here we introduce a multivariate framework for characterising longitudinal changes in structural MRI using dynamical systems. The general approach enables modelling changes of states in multiple imaging biomarkers typically observed during brain development, plasticity, ageing and degeneration, e.g. regional gray matter volume of multiple regions of interest (ROIs). Structural brain states follow intrinsic dynamics according to a linear system with additional inputs accounting for potential driving forces of brain development...
February 15, 2017: NeuroImage
https://www.readbyqxmd.com/read/27866050/boucher-neuh%C3%A3-user-syndrome-a-rare-cause-of-inherited-hypogonadotropic-hypogonadism-a-case-of-two-adult-siblings-with-two-novel-mutations-in-pnpla6
#11
Jakob H Langdahl, Anja L Frederiksen, Nina Nguyen, Klaus Brusgaard, Claus B Juhl
Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five healthy siblings were non- or heterozygous carriers of the mutations. The cases, which presented with ataxia in childhood and hypogonadotropic hypogonadism (HH), were diagnosed at age 17 and 25, respectively, when examined for delayed puberty...
February 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27862168/late-onset-bulky-naevocytoma-of-the-perineum-masquerading-as-a-malignant-melanoma
#12
J W Huh, J Yoo, M S Kim, K H Choi, M S Jue, H J Park
Bulky naevocytoma of the perineum is a very rare variant of giant congenital melanocytic naevus (GCMN). It presents as a bulky naevocytic tumour in the perineal region with characteristic histological findings, such as extensive areas with a neural appearance called 'lames foliacees', formation of a pseudofollicular structure and extension of naevus cells between collagen bundles in a row called 'Indian-file' pattern. We report a case of late-onset bulky naevocytoma of the perineum in a 13-year-old girl. The patient presented with two bulky, pedunculated, heavily pigmented masses in the vulvar area that developed in a pre-existing GCMN lesion, which began around puberty and caused severe gait disturbance...
November 15, 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27777908/body-image-and-depression-in-girls-with-idiopathic-precocious-puberty-treated-with-gonadotropin-releasing-hormone-analogue
#13
Min-Seon Choi, Eun-Young Kim
PURPOSE: Precocious puberty (PP) is associated with psychological and behavioral problems. This study aimed to evaluate the perception of body image and depression in girls with PP receiving gonadotropin-releasing hormone (GnRH) analogue therapy. METHODS: From March to August 2013, 82 girls with PP receiving GnRH analogue therapy were enrolled. Height, weight, body mass index, and stages of pubertal development were assessed. Participants completed a series of questionnaires on their body image perception and pubertal self-assessment...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27769633/urine-bisphenol-a-and-pubertal-development-in-boys
#14
Ziliang Wang, Dekun Li, Maohua Miao, Hong Liang, Jianping Chen, Zhijun Zhou, Chunhua Wu, Wei Yuan
BACKGROUND: Bisphenol A (BPA) is an environmental endocrine disruptor and is found in many consumer products. Animal studies suggest that BPA may perturb pubertal development in males, although studies in humans are limited. OBJECTIVE: This study investigated the association between BPA exposure and pubertal onset and progression among school-aged boys in Shanghai, China. METHODS: A total of 671 boys aged 9-18 years from three schools (one elementary, one middle, and one high school) in Shanghai were enrolled in a cross-sectional study...
January 2017: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/27743688/puberty-ovarian-cycle-pregnancy-and-postpartum-ovulation-in-captive-sichuan-golden-monkeys-rhinopithecus-roxellana-based-on-changes-in-urinary-and-fecal-gonadal-steroid-metabolites
#15
Muren, Satoshi Kusuda, Osamu Doi, Hitomi Naito, Hisashi Hashikawa
The purpose of this study was to evaluate the reproductive status and clarify the reproductive physiology of captive Sichuan golden monkeys. The concentrations of urinary estradiol-3-glucuronide (E2G) and pregnanediol-glucuronide (PdG) or fecal estradiol-17β (E2) and PdG in two females, and fecal testosterone concentrations in a male, were measured continuously using enzyme immunoassays. On the basis of these hormone profiles, the follicular phase, luteal phase, and ovarian cycle were calculated to be 14.7 ± 4...
January 1, 2017: Theriogenology
https://www.readbyqxmd.com/read/27662834/age-at-menarche-in-korean-adolescents-trends-and-influencing-factors
#16
Mee-Hwa Lee, Shin Hye Kim, Minkyung Oh, Kuk-Wha Lee, Mi-Jung Park
BACKGROUND: An increased incidence of central precocious puberty has been recently reported in South Korea, which suggests an ongoing downward trend in pubertal development in the Korean population. We aimed to verify the trend in age at menarche in young Korean women during the last decade and associated factors. METHODS: We analyzed a population-based sample of 3409 Korean girls, aged 10-18 years, using data from the Korean National Health and Nutrition Examination Surveys (KNHANES) II (2001), III (2005), IV (2007-2009), and V (2010 and 2011)...
2016: Reproductive Health
https://www.readbyqxmd.com/read/27646495/prospective-study-of-hypothalamo-hypophyseal-dysfunction-in-children-and-adolescents-following-traumatic-brain-injury
#17
David Krahulik, Darina Aleksijevic, Vratislav Smolka, Eva Klaskova, Petra Venhacova, Miroslav Vaverka, Vladimir Mihal, Jirina Zapletalova
BACKGROUND AND AIMS: Retrospective studies of TBI have found a neuroendocrine dysfunction following traumatic brain injury in 23 to 60% of adults and 15 to 21% of children. Our aims were to determine the prevalence of hypothalamo-hypophyseal dysfunction in children following brain injury, assess its relationship to the type of injury and the course of the acute post-traumatic phase. PATIENTS AND METHODS: Body development (growth, pubertal development, and skeletal maturity) were evaluated in 58 patients (21 girls) after a brain injury rated 3 to 12 on the Glasgow Coma Scale (GCS)...
September 19, 2016: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/27611179/testicular-function-during-puberty-and-young-adulthood-in-patients-with-klinefelter-s-syndrome-with-and-without-spermatozoa-in-seminal-fluid
#18
J Rohayem, E Nieschlag, M Zitzmann, S Kliesch
Patients with Klinefelter's syndrome experience progressive testicular degeneration resulting in impaired endocrine function and azoospermia. What proportion of adolescents develop testosterone deficiency during puberty and how many have spermatozoa in their semen is unclear to date. We aimed to investigate testicular function during puberty and young adulthood in patients with Klinefelter's syndrome and to assess testosterone effects in target tissues. The clinical data of 281 patients with non-mosaic Klinefelter's syndrome aged 10-25 years without previous testosterone replacement were reviewed...
September 9, 2016: Andrology
https://www.readbyqxmd.com/read/27603898/ethnic-and-sex-differences-in-adiponectin-from-childhood-to-adulthood
#19
Rebecca A Ohman-Hanson, Melanie Cree-Green, Megan M Kelsey, Daniel H Bessesen, Teresa A Sharp, Laura Pyle, Rocio I Pereira, Kristen J Nadeau
CONTEXT: Insulin resistance (IR) and type 2 diabetes are increasing, particularly in Hispanic (H) vs non-Hispanic White (NHW) populations. Adiponectin has a known role in IR, and therefore, understanding ethnic and sex-specific behavior of adiponectin across the lifespan is of clinical significance. OBJECTIVE: To compare ethnic and sex differences in adiponectin, independent of body mass index, across the lifespan and relationship to IR. DESIGN: Cross-sectional...
December 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27600751/longitudinal-effects-of-self-report-pubertal-timing-and-menarcheal-age-on-adolescent-psychological-and-behavioral-outcomes-in-female-youths-from-northern-taiwan
#20
Chih-Ting Lee, Meng-Che Tsai, Chung-Ying Lin, Carol Strong
BACKGROUND: Early puberty is linked to adverse developmental outcomes in adolescents in Western societies. However, little is known about this relationship in an East Asian context. In addition, whether the impact of subjective pubertal timing (PT) and menarcheal age (MA) on adolescent psychosocial development persists into early adulthood remains unclear and is worthy of investigation. METHODS: A subset of data was retrieved from the Taiwan Youth Project, which recruited and followed a longitudinal cohort of 7(th)- and 9(th)-grade female Taiwanese students from 2000 to 2007...
July 26, 2016: Pediatrics and Neonatology
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