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delayed puberty

T Mahévas, D Gobert, M Gatfossé, A Mekinian, O Fain
INTRODUCTION: Hepatic glycogenosis is a rare syndrome, which includes poorly controlled diabetes mellitus, hepatomegaly, delayed puberty, and growth delay. Insulin edema is sometimes associated. CASE REPORT: An 18-year-old woman presented with diffuse edema, hepatomegaly, amenorrhea, uncontrolled diabetes, and elevated transaminases and cholestasis. Hepatic ultrasonography and abdominal computed tomographic scan confirmed the hepatomegaly. The liver biopsy showed a massive glycogenosis and the diagnosis of hepatic glycogenosis was confirmed...
October 13, 2016: La Revue de Médecine Interne
Manouk van der Steen, Rolph Pfundt, Stephan J W H Maas, Willie M Bakker-vanWaarde, Roelof J Odink, Anita C S Hokken-Koelega
BACKGROUND: Some children born SGA show advanced bone age (BA) during GH treatment. ACAN-gene mutations have been described in children with idiopathic short stature and advanced BA. OBJECTIVE: To determine presence of ACAN-gene mutations in short SGA children with advanced BA and to assess the response to GH treatment. METHODS: BA assessment in 290 GH-treated SGA children and ACAN-sequencing in 29 children with advanced BA of ≥0.5 years compared to calendar age...
October 6, 2016: Journal of Clinical Endocrinology and Metabolism
Y-X Kang, Y-J Wang, Q Zhang, X-H Pang, W Gu
Kearns-Sayre syndrome (KSS) is a disorder caused by mutations in mitochondrial DNA. Here, we report an unusual case of Kearns-Sayre syndrome accompanied by hypopituitarism (deficiencies in reproductive and growth hormones). A 20-year-old male presented with growth retardation for the last 8 years, as well as the following findings: short stature, delayed puberty, myasthenia, an extraocular movement deficit, drooping eyelids, pectus carinatum and scoliosis. Cerebral enhanced magnetic resonance imaging revealed dysplasias of the pituitary, white matter and cerebellum...
October 6, 2016: Andrologia
A Dance, J Kastelic, J Thundathil
Beef and dairy bull calves fed a low-nutrition diet during early life had decreased concentrations of circulating insulin-like growth factor I (IGF-I), delayed increases in testosterone, smaller testes and delayed puberty compared with those fed high-nutrition diets. Although IGF-1 has important roles in Sertoli cell function in rats and mice, this has not been well documented in bulls. The objectives of this study were to: (1) isolate Sertoli cells from bull calves at 8 weeks of age, (2) culture them in vitro and (3) determine the effects of IGF-I, FSH and a combination of both hormones on cell proliferation...
October 5, 2016: Reproduction, Fertility, and Development
Susanne U Miedlich, Nima Karamooz, Stephen R Hammes
OBJECTIVE: Aromatase, or CYP19A1, is a type II cytochrome CYP450 enzyme that catalyzes the conversion of C19 androgens to C18 estrogens. Its crucial role in both female and male physiology has been deduced from human and animal studies using aromatase inhibitors, genetically altered mice, and patients with aromatase deficiency. The latter is an extremely rare disorder. Its diagnosis is particularly difficult in males, who go through puberty normally and therefore usually present as adults with elevated testosterone, bone abnormalities (e...
September 29, 2016: Bone
Youmei Wu, Jialu Wang, Wei Cai, Xiuhua Shen
Precocious puberty which impacts children physically and psychologically has become one of the health problem over the world. However, the mechanism and preventive measures of precocious puberty is still not clear. Recent studies suggested that leptin may act as the 'permissive factor' to initiate the puberty by regulating gonadotrophin-releasing hormone secretion. Previous evidence from animal and human studies found that tea polyphenols can reduce serum leptin levels in vivo and inhibit the expression of leptin in adipose tissue...
October 2016: Medical Hypotheses
Maria Manfredi-Lozano, Juan Roa, Francisco Ruiz-Pino, Richard Piet, David Garcia-Galiano, Rafael Pineda, Aurora Zamora, Silvia Leon, Miguel A Sanchez-Garrido, Antonio Romero-Ruiz, Carlos Dieguez, Maria Jesus Vazquez, Allan E Herbison, Leonor Pinilla, Manuel Tena-Sempere
OBJECTIVE: Puberty is a key developmental phenomenon highly sensitive to metabolic modulation. Worrying trends of changes in the timing of puberty have been reported in humans. These might be linked to the escalating prevalence of childhood obesity and could have deleterious impacts on later (cardio-metabolic) health, but their underlying mechanisms remain unsolved. The neuropeptide α-MSH, made by POMC neurons, plays a key role in energy homeostasis by mediating the actions of leptin and likely participates in the control of reproduction...
October 2016: Molecular Metabolism
Joanna Helena Sliwowska, Wendy L Comeau, Tamara S Bodnar, Linda Ellis, Joanne Weinberg
BACKGROUND: Reproductive maturation is initiated with the onset of puberty, which activates the hypothalamic-pituitary-gonadal axis and coincidences with increased expression of the hormone kisspeptin within the hypothalamus. Maturational events are sensitive to environmental factors, including alcohol, which is known to delay reproductive development. We hypothesized that, similar to alcohol's adverse effects during reproductive maturation, prenatal alcohol exposure (PAE) would alter pubertal markers, sex hormone profiles, and kisspeptin expression in the hypothalamus...
September 30, 2016: Alcoholism, Clinical and Experimental Research
Nader Salama
BACKGROUND: Kallmann syndrome (Kal S) is an isolated form of hypogonadotrophic hypogonadism in combination with a defect in smell sensation. Depending on the genetic form of the disease, a number of non-reproductive, non-olfactory abnormalities may also be existent. In the present report, we describe a male with Kal S associated with hearing loss, and the successful treatment of his sexual and reproductive defects. CASE: A 23-year-old Caucasian man presented with a lifelong lack of erection and ejaculation...
August 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
Lucia Ferrito, Giovanni Cobellis, Diana Giobbi, Cecilia Proietti Pannunzi, Antonio Iannilli, Valentino Cherubini
BACKGROUND: Adrenocortical tumors (ACTs) represent less than 0.2% of all childhood neoplasms. Frequent clinical manifestations are virilization, hypercortisolism and peripheral precocious puberty (PPP). CASES: We describe two cases in which ACTs were responsible for virilization (case 1) and PPP (case 2) in pre-pubertal girls. In both cases an ACT diagnosis was made after 5-6 months from the first appearance of clinical signs, surgery was performed within 1 month of diagnosis and the benign nature of tumors was histologically confirmed...
September 22, 2016: Journal of Pediatric and Adolescent Gynecology
Da Kyung Yoo, Sung-Ho Lee
Lipopolysaccharide (LPS), an endotoxin, elicits strong immune responses in mammals. Several lines of evidence demonstrate that LPS challenge profoundly affects female reproductive function. For example, LPS exposure affects steroidogenesis and folliculogenesis, resulting in delayed puberty onset. The present study was conducted to clarify the mechanism underlying the adverse effect of LPS on the delayed puberty in female rats. LPS was daily injected for 5 days (50 μg/kg, PND 25-29) to treated animals and the date at VO was evaluated through daily visual examination...
June 2016: Balsaeng'gwa Saengsig
Archana D Rathod, Rohidas P Chavan, Sandhya P Pajai, Vijay Bhagat, Prachi Thool
ABSTRACT: Adolescence is a period of enormous physical and psychological change for young girls. Many adolescents with menstrual disturbances never present to their family doctor or gynecologist. Embarrassment about discussing menstruation, fear of disease, and ignorance about services available may lead to delayed presentation or consultation with doctor. AIMS AND OBJECTIVE: To evaluate the different gynecological problems in adolescent girls attending outpatient department...
October 2016: Journal of Obstetrics and Gynaecology of India
Domenico Corica, Claudio Romano
The incidence of inflammatory bowel disease (IBD) has increased steadily worldwide, both in adult and in children; approximately 25% of IBD patients are diagnosed before the age of 18. The natural history of IBD is usually more severe in children than in adults, and can be associated with linear growth impairment, delayed puberty onset, reduced bone mass index, malnutrition, and the need for surgery. Biological therapies, especially blocking tumor necrosis factor-α (TNFα), have radically modified the treatment strategies and disease course of IBD in children...
September 15, 2016: Journal of Clinical Gastroenterology
Alice Goldenberg, Florence Riccardi, Aude Tessier, Rolph Pfundt, Tiffany Busa, Pierre Cacciagli, Yline Capri, Charles Coutton, Andree Delahaye-Duriez, Thierry Frebourg, Vincent Gatinois, Anne-Marie Guerrot, David Genevieve, Francois Lecoquierre, Aurélia Jacquette, Philippe Khau Van Kien, Bruno Leheup, Sandrine Marlin, Alain Verloes, Vincent Michaud, Gwenael Nadeau, Cyril Mignot, Philippe Parent, Massimiliano Rossi, Annick Toutain, Elise Schaefer, Christel Thauvin-Robinet, Lionel Van Maldergem, Julien Thevenon, Véronique Satre, Laurence Perrin, Catherine Vincent-Delorme, Arthur Sorlin, Chantal Missirian, Laurent Villard, Julien Mancini, Pascale Saugier-Veber, Nicole Philip
KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical and molecular study of 39 patients affected by KBG syndrome. Among them, 19 were diagnosed after the detection of a 16q24.3 deletion encompassing the ANKRD11 gene by array CGH. In the 20 remaining patients, the clinical suspicion was confirmed by the identification of an ANKRD11 mutation by direct sequencing. We present arguments to modulate the previously reported diagnostic criteria...
November 2016: American Journal of Medical Genetics. Part A
Emma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M O'Connell, Jennifer Salem, Jet Bliek, Ana P M Canton, Krystyna H Chrzanowska, Justin H Davies, Renuka P Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C S Hokken-Koelega, Alexander A Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E Moore, Philip G Murray, Tsutomu Ogata, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D Harbison, I Karen Temple, Deborah J G Mackay, Irène Netchine
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype...
September 2, 2016: Nature Reviews. Endocrinology
Julie Selwyn, Sarah Meakings
Adolescent-to-parent violence (APV) has received little attention in the social work literature, although it is known to be a factor in families whose children are at risk of entry to care. The behaviour patterns that characterise APV include coercive control, domination and intimidation. Crucially, parental behaviours are compromised by fear of violence. This article discusses the unexpected findings from two recent adoption studies of previously looked after children in England and Wales. The studies exposed the prevalence of APV in the lives of families who had experienced an adoption disruption and those who were finding parenting very challenging...
July 2016: British Journal of Social Work
Cele E Richardson, Michael Gradisar, Michelle A Short, Christin Lang
Adolescents are vulnerable to inadequate sleep due to a unique constellation of risk factors. In particular, the puberty-related phase delay in the timing of the circadian system postpones the onset of sleep. Resultantly, disordered sleep is common among teenagers and young adults, with the most common sleep problem being delayed sleep wake-phase disorder (DSWPD). Although current treatments for DSWPD show promise, novel ways to improve our youth's sleep are needed. The purpose of this review is to critically evaluate the evidence for the role of exercise as a method to shift and/or regulate circadian timing, and thus improve sleep, in adolescents and young adults...
July 11, 2016: Sleep Medicine Reviews
Katarina Danielsson, Agneta Markström, Jan-Erik Broman, Lars von Knorring, Markus Jansson-Fröjmark
A delayed sleep-wake and circadian rhythm often occurs during puberty. While some individuals only develop a delayed sleep phase (DSP), others will fulfill the criteria for the diagnosis of delayed sleep phase disorder (DSPD). All previous studies have however not separated DSP from DSPD, and, as a result, the prevalence and associated factors are largely unknown for the two conditions individually. We estimated the prevalence of DSP and DSPD in a Swedish cohort of adolescents and young adults. We also investigated associated factors in the two conditions relative to each other and individuals with no DSP...
August 18, 2016: Chronobiology International
Mengmeng Xu, Long Che, Zhenguo Yang, Pan Zhang, Jiankai Shi, Jian Li, Yan Lin, Zhengfeng Fang, Lianqiang Che, Bin Feng, De Wu, Shengyu Xu
Excessive fat intake is a global health concern as women of childbearing age increasingly ingest a high fat diet. We therefore determined the association of a maternal high fat diet in pregnancy with offspring ovarian health during the gestation and postnatal female offspring in pig a model. Thirty-two Yorkshire gilts with similar bodyweights mated at the third estrus were randomly assigned to two nutrition levels of either a control (CON, crude fat: 7.27%) or a high fat diet (HFD, crude fat: 11.78%). Ovary samples were collected during the fetal (Day 55 (g55) and Day 90 of gestation (g90)) and offspring (prepuberty Day 160 (d160) and age at puberty) period to detect ovary development, antioxidant status and apoptosis cells...
2016: Nutrients
Francois-Pierre Martin, Jessica Ezri, Ornella Cominetti, Laeticia Da Silva, Martin Kussmann, Jean-Philippe Godin, Andreas Nydegger
BACKGROUND: Growth failure and delayed puberty are well known features of children and adolescents with inflammatory bowel disease (IBD), in addition to the chronic course of the disease. Urinary metabonomics was applied in order to better understand metabolic changes between healthy and IBD children. METHODS: 21 Pediatric patients with IBD (mean age 14.8 years, 8 males) were enrolled from the Pediatric Gastroenterology Outpatient Clinic over two years. Clinical and biological data were collected at baseline, 6, and 12 months...
2016: International Journal of Molecular Sciences
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