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https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#1
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211649/insufficient-sleep-in-adolescents-causes-and-consequences
#2
Judith A Owens, Miriam R Weiss
Insufficient sleep poses an important and complicated set of health risks in the adolescent population. Not only is deficient sleep (defined as both sleep duration inadequate to meet sleep needs and sleep timing misaligned with the body's circadian rhythms) at epidemic levels in this population, but the contributing factors are both complex and numerous and there are a myriad of negative physical and mental health, safety and performance consequences. Causes of inadequate sleep identified in this population include internal biological processes such as the normal shift (delay) in circadian rhythm that occurs in association with puberty and a developmentally-based slowing of the "sleep drive", and external factors including extracurricular activities, excessive homework load, evening use of electronic media, caffeine intake and early school start times...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28209183/variants-in-congenital-hypogonadotrophic-hypogonadism-genes-identified-in-an-indonesian-cohort-of-46-xy-under-virilised-boys
#3
Katie L Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H Sinclair, Sultana M H Faradz
BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty...
February 16, 2017: Human Genomics
https://www.readbyqxmd.com/read/28182652/nakalanga-syndrome-clinical-characteristics-potential-causes-and-its-relationship-with-recently-described-nodding-syndrome
#4
REVIEW
Kathrin Föger, Gina Gora-Stahlberg, James Sejvar, Emilio Ovuga, Louise Jilek-Aall, Erich Schmutzhard, Christoph Kaiser, Andrea S Winkler
Nakalanga syndrome is a condition that was described in Uganda and various other African countries decades ago. Its features include growth retardation, physical deformities, endocrine dysfunction, mental impairment, and epilepsy, amongst others. Its cause remains obscure. Nodding syndrome is a neurological disorder with some features in common with Nakalanga syndrome, which has been described mainly in Uganda, South Sudan, and Tanzania. It has been considered an encephalopathy affecting children who, besides head nodding attacks, can also present with stunted growth, delayed puberty, and mental impairment, amongst other symptoms...
February 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28173651/-rapidly-progressive-puberty-in-a-patient-with-mosaic-turner-syndrome-a-case-report-and-literature-review
#5
Y Liang, H Wei, X Yu, W Huang, X P Luo
Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28160246/hypogonadotropic-hypogonadism-in-males-with-glycogen-storage-disease-type-1
#6
Evelyn M Wong, Anna Lehman, Philip Acott, Jane Gillis, Daniel L Metzger, Sandra Sirrs
BACKGROUND: Glycogen storage disease type 1 is an autosomal recessive disorder with an incidence of 1 in 100,000. Long-term complications include chronic blood glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrome (type 1b), hypertriglyceridemia, and irregular menstrual cycles...
February 4, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28141708/an-8-year-old-biological-female-who-identifies-herself-as-a-boy-perspectives-in-primary-care-and-from-a-parent
#7
Leah Kern, Penn Edmonds, Ellen C Perrin, Martin T Stein
An 8-year 8-month-old biological female who self-identifies as a boy, Ricardo is brought by his mother for a well-child check to his new pediatrician. Ricardo and his mother report that he is doing well, but have concerns about the upcoming changes associated with puberty. Ricardo states that he is particularly afraid of developing breasts. His mother asks about obtaining a referral to a specialist who can provide "hormone therapy" to delay puberty.Ricardo was adopted from Costa Rica at the age of 2 as a healthy girl named "Angela...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28130750/pegylated-interferon-%C3%AE-ribavirin-therapy-enhances-bone-mineral-density-in-children-with-chronic-genotype-4-hcv-infection
#8
Ahmed Megahed, Nanees Salem, Abeer Fathy, Tarik Barakat, Mona Abd El Latif Alsayed, Suzy Abd El Mabood, Khaled R Zalata, Ahmed F Abdalla
BACKGROUND: The impact of chronic hepatitis C (CHC) on bone mineral density (BMD) has been well studied in adults with a relative paucity of data in children, especially concerning effect of treatment with pegylated interferon (PEG-IFN) plus ribavirin (RV). In the current work, we assessed prospectively changes in BMD in children with CHC before, during, and after treatment. METHODS: Forty-six consecutive children with noncirrhotic genotype 4 CHC were subjected to dual-energy X-ray absorptiometry at baseline, 24 weeks, 48 weeks of therapy and 24 weeks after treatment...
January 27, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28096608/effect-of-aegle-marmelos-and-murraya-koenigii-in-treatment-of-delayed-pubertal-buffaloes-heifers
#9
Mohan M Baitule, A P Gawande, Umesh Kumar, S K Sahatpure, Manoj S Patil, Mansi M Baitule
AIM: This study aims to study the estrus induction, ovulation, and conception rate of delayed puberty in buffaloes heifers by feeding a herbal plants Aegle marmelos (bael/bili/bhel leaf) and Murraya koenigii (Curry leaf). MATERIALS AND METHODS: Totally, 24 buffalo heifers with delayed puberty were selected for the present study and divided randomly in four equal groups (n=6). Before experiment, all animals were dewormed with albendazole at 10 mg/kg body weight to prevent them from the stress of parasitism...
December 2016: Veterinary World
https://www.readbyqxmd.com/read/28074248/pregnancy-associated-osteoporosis-a-case-control-study
#10
P Hadji, J Boekhoff, M Hahn, L Hellmeyer, O Hars, I Kyvernitakis
: The etiology and underlying mechanisms of pregnancy-associated osteoporosis (PAO) are still unknown, since no systematic analyses exist. Our results indicate that PAO is a heterogeneous, rare but severe disease including a substantial number of fractures with a significant delay from first symptom to diagnose. INTRODUCTION: Pregnancy-associated osteoporosis (PAO) is a rare but severe type of premenopausal osteoporosis. Most common symptom includes acute lower back pain due to vertebral fracture predominantly occurring in the last trimester of pregnancy or immediately postpartum...
January 10, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28065179/maternal-fish-oil-supplementation-during-lactation-is-associated-with-reduced-height-at-13-years-of-age-and-higher-blood-pressure-in-boys-only
#11
L Lauritzen, S E Eriksen, M F Hjorth, M S Nielsen, S F Olsen, K D Stark, K F Michaelsen, C T Damsgaard
Dietary long-chain n-3 PUFA (n-3 LCPUFA) in infancy may have long-term effects on lifestyle disease risk. The present follow-up study investigated whether maternal fish oil (FO) supplementation during lactation affected growth and blood pressure in adolescents and whether the effects differed between boys and girls. Mother-infant pairs (n 103) completed a randomised controlled trial with FO (1·5 g/d n-3 LCPUFA) or olive oil (OO) supplements during the first 4 months of lactation; forty-seven mother-infant pairs with high fish intake were followed-up for 4 months as the reference group...
December 2016: British Journal of Nutrition
https://www.readbyqxmd.com/read/27997352/transdermal-testosterone-gel-for-induction-and-continuation-of-puberty-in-adolescent-boys-with-hepatic-dysfunction
#12
Maria F Contreras, Manish Raisingani, Kris Prasad, Bonita Franklin, Bina Shah
Treatment to induce puberty in boys is indicated in those who do not undergo spontaneous development at a normal age. Stimulating development of the secondary sex characteristics is possible using gradually increasing doses of testosterone esters (TEs) via intramuscular (IM) administration, which is the most widely used method of testosterone (T) supplementation. When TEs are administered as monthly injection, serum T levels exhibit large fluctuations with supraphysiologic levels seen immediately after the injection followed by a decrease into the low range...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27993449/growth-and-final-height-of-children-with-gaucher-disease-a-15-year-follow-up-at-an-israeli-gaucher-center
#13
Espen Mendelsohn, Amos Meir, Aya Abrahamov, Deborah Elstein, Ari Zimran, Floris Levy-Khademi
BACKGROUND: It is held that enzyme replacement therapy (ERT) accelerates the growth rate in children with Gaucher disease, but its effect on final height has not been established with certainty. This study presents final heights of Gaucher patients followed up for 15years. METHODS: The study included 41 adults with non-neuronopathic Gaucher disease. The final height of the patients and age at puberty was compared to their mid-parental target height and to their siblings' heights...
December 9, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27990598/disorders-of-sex-development-dsd-not-only-babies-with-ambiguous-genitalia-a-practical-guide-for-surgeons
#14
Irene Kearsey, John M Hutson
INTRODUCTION AND METHODS: In this review, we describe the common clinical scenarios that may be present to a paediatric surgeon when a patient has a disorder of sex development (DSD). Our aim was to prepare surgeons so that they can respond with correct approaches to diagnose and manage the given situations. RESULTS: DSD present in three distinct clinical situations: in the neonate with some abnormality of the external genitalia; in the child undergoing surgical treatment for inguinal hernia or during open or laparoscopic orchidopexy or during hypospadias correction; and at or after puberty, which may be precocious or delayed or in an adolescent girl with masculinisation at puberty...
December 18, 2016: Pediatric Surgery International
https://www.readbyqxmd.com/read/27988506/plasma-concentrations-of-osteocalcin-are-associated-with-the-timing-of-pubertal-progress-in-boys
#15
Michael M Schündeln, Lena Bäder, Cordula Kiewert, Ralf Herrmann, Dagmar Führer, Berthold P Hauffa, Corinna Grasemann
BACKGROUND: Animal models have shown that the skeletal hormone osteocalcin stimulates testicular testosterone synthesis. To assess whether osteocalcin might be a useful marker to detect pubertal development disorders, we examined osteocalcin plasma concentrations in children and adolescents with and without disorders of pubertal development. METHODS: Osteocalcin concentrations were investigated in a total of 244 patients with endocrine disorders (122 males, mean age: 11...
February 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27982202/a-boy-with-prader-willi-syndrome-unmasking-precocious-puberty-during-growth-hormone-replacement-therapy
#16
Natasha G Ludwig, Rafael F Radaeli, Mariana M X Silva, Camila M Romero, Alexandre J F Carrilho, Danielle Bessa, Delanie B Macedo, Maria L Oliveira, Ana Claudia Latronico, Tânia L Mazzuco
Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test...
November 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27976569/horseshoe-kidney-with-growth-retardation-don-t-forget-turner-syndrome
#17
Seçil Arslansoyu-Çamlar, Alper Soylu, Ayhan Abacı, Mehmet Atilla Türkmen, Ayfer Ülgenalp, Salih Kavukçu
Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27956181/latent-tgf-%C3%AE-binding-protein-1-deficiency-decreases-female-fertility
#18
Eileen Dietzel, Sabine Weiskirchen, Julia Floehr, Masahito Horiguchi, Vesna Todorovic, Daniel B Rifkin, Willi Jahnen-Dechent, Ralf Weiskirchen
The four latent transforming growth factor-β (TGF-β) binding proteins LTBP1-4 are extracellular matrix-associated proteins playing a critical role in the activation of TGF-β. The LTBP1 gene forms two major transcript variants (i.e. Ltbp1S and Ltbp1L) that are derived from different promoters. We have previously shown the importance of LTBP1 in vivo by using three different Ltbp1 null mice that were either deleted for exons 1 and 2 (Ltbp1L knockout), exon 5 (Ltbp1ΔEx5), or exon 8 (Ltbp1ΔEx8). While the Ltbp1L knockout and the Ltbp1ΔEx8 are perinatal lethal and die of cardiovascular abnormalities, the Ltbp1ΔEx5 is viable because it expresses a short form of Ltbp1L that lacks 55 amino acids (Δ55 variant of Ltbp1) formed by splicing out exon 5, while lacking the Ltbp1S variant...
January 22, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27941181/hypogonadotropic-hypogonadism-in-a-female-patient-with-congenital-arhinia
#19
Janel Darcy Hunter, Melissa Ann Davis, Jennifer Rachel Law
The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient. A 14 years and 8 months female with congenital arhinia presented with delayed puberty. Physical examination and laboratory evaluation were consistent with hypogonadotropic hypogonadism...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27940666/rasopathies-are-associated-with-delayed-puberty-are-they-associated-with-precocious-puberty-too
#20
Daniëlle C M van der Kaay, Bat-Sheva Levine, Daniel Doyle, Roberto Mendoza-Londono, Mark R Palmert
RASopathies, such as Noonan, Costello, and cardio-facio-cutaneous syndromes, are developmental disorders caused by mutations in rat sarcoma-mitogen-activated protein kinase pathway genes. Mutations that cause Noonan syndrome have been associated with delayed puberty. Here we report 4 patients with either Costello or cardio-facio-cutaneous syndrome who developed precocious puberty, suggesting complex regulation of the hypothalamic-pituitary-gonadal axis and the timing of puberty by the rat sarcoma-mitogen-activated protein kinase pathway...
December 2016: Pediatrics
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