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Growth hormone syndrome

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https://www.readbyqxmd.com/read/29339473/identification-of-thioredoxin-interacting-protein-txnip-as-a-downstream-target-for-igf1-action
#1
Karthik Nagaraj, Lena Lapkina-Gendler, Rive Sarfstein, David Gurwitz, Metsada Pasmanik-Chor, Zvi Laron, Shoshana Yakar, Haim Werner
Laron syndrome (LS), or primary growth hormone (GH) insensitivity, is the best-characterized entity among the congenital insulin-like growth factor 1 (IGF1) deficiencies. Life-long exposure to minute endogenous IGF1 levels is linked to low stature as well as a number of endocrine and metabolic abnormalities. While elevated IGF1 is correlated with increased cancer incidence, epidemiological studies revealed that patients with LS do not develop tumors. The mechanisms associated with cancer protection in LS are yet to be discovered...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29327300/cant%C3%A3%C2%BA-syndrome-with-coexisting-familial-pituitary-adenoma
#2
Pedro Marques, Rupert Spencer, Patrick J Morrison, Ian M Carr, Mary N Dang, David T Bonthron, Steven Hunter, Márta Korbonits
CONTEXT: Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations of Cantú syndrome. CASE DESCRIPTION: We present a three-generation family with 5 affected members, with marked acromegaloid facies and prominent hypertrichosis, due to a novel missense variant in the ABCC9 gene. The proband, a 2-year-old girl, was referred due to marked hypertrichosis, noticed soon after birth, associated with coarsening of her facial appearance...
January 11, 2018: Endocrine
https://www.readbyqxmd.com/read/29306927/a-rare-unbalanced-y-autosome-translocation-in-a-turner-syndrome-patient
#3
Ruen Yao, Ding Yu, Jian Wang, Xiumin Wang, Yiping Shen
BACKGROUND: Y:autosome translocations are reported to be associated with male infertility and azoospermia. Female cases with Y:autosome translocation are extremely rare. CASE PRESENTATION: We report a unique case of a rare unbalanced translocation t(Y;13) in a 12-year-old girl with Turner syndrome. Combined cytogenetic testing helped to demonstrate the detail of rare chromosomal structural rearrangement in this patient. CONCLUSIONS: The presented case showed femaleness phenotype and failure of masculinization with presence of Y chromosome and the SRY gene...
January 8, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29306560/treatment-of-growth-failure-in-the-absence-of-gh-signaling-the-ecuadorian-experience
#4
Jaime Guevara-Aguirre, Alexandra Guevara, Carolina Guevara
Recombinant human insulin-like growth factor-1 (rhIGF-1) treatment studies of growth failure in absence of growth hormone (GH) signaling (GH insensitivity -GHI, Laron syndrome -LS, GH Receptor deficiency -GHRD) have taken place in many locations around the globe. Results from these trials are comparable, and slight differences reported can be attributed to specific circumstances at different research sites. rhIGF-I treatment studies of GHI in Ecuador included various trials performed on children belonging to the largest and only homogeneous cohort of subjects with this condition in the world...
December 20, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29300907/a-6-year-follow-up-of-fracture-incidence-and-volumetric-bone-mineral-density-development-in-girls-with-turner-syndrome
#5
Ondrej Soucek, Eckhard Schönau, Jan Lebl, Johannes Willnecker, Zdenek Hlavka, Zdenek Sumnik
Context: Patients with Turner Syndrome (TS) are at risk of osteoporotic fractures. Objective: The aims of this study were to assess the incidence of clinically significant fractures in girls with TS and prospectively describe the development of volumetric bone mineral density (BMD). Design: Peripheral quantitative computerized tomography (pQCT) of the radius every other year over the 6 years of observation. Setting: Government funded university referral center...
December 28, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29299820/malignant-transformation-in-non-functioning-pituitary-adenomas-pituitary-carcinoma
#6
REVIEW
Nèle Lenders, Ann McCormack
Non-functioning pituitary carcinomas (NFPC) are defined as tumours of adenophyseal origin with craniospinal or systemic dissemination, with the absence of a hormonal hypersecretion syndrome. These are a histologically heterogenous group of tumours, comprising gonadotroph, null cell, "silent" tumours of corticotroph, somatotroph or lactotroph cell lineages as well as plurihormonal Pit-1 tumours. NFPC are exceedingly rare, and hence few cases have been described. This review has identified 38 patients with NFPC reported in the literature...
January 3, 2018: Pituitary
https://www.readbyqxmd.com/read/29299107/the-missing-link-a-case-of-absent-pituitary-infundibulum-and-ectopic-neurohypophysis-in-a-pediatric-patient-with-heterotaxy-syndrome
#7
Adil Omer, Dana Haddad, Leszek Pisinski, Alan V Krauthamer
We report a case of absent pituitary infundibulum and ectopic neurohypophysis in a 4-year-old patient presenting clinically with hypopituitarism as well as heterotaxy syndrome complicated by global developmental delay and growth retardation. The clinical and laboratory workup of our patient suggested underlying hypopituitarism related to either congenital or acquired pathology, necessitating MRI to distinguish between them. We explain the various structural causes of hypopituitarism and detail how to predict the MRI findings and treatment, based on a fundamental understanding of the anatomy and pathophysiology of the hypothalamic pituitary axis and distinguishing anterior versus posterior pituitary hormone derangements...
September 2017: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/29298282/the-effects-of-growth-hormone-therapy-on-the-somatic-development-of-a-group-of-polish-children-with-silver-russell-syndrome
#8
Magdalena Sienko, Elżbieta Petriczko, Stanislaw Zajaczek, Agata Zygmunt-Gorska, Jerzy Starzyk, Alicja Korpysz, Jan Petriczko, Alicja Walczak, Mieczysław Walczak
OBJECTIVE: Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients...
December 4, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29280744/update-on-the-genetics-of-idiopathic-hypogonadotropic-hypogonadism
#9
A Kemal Topaloğlu
Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating variants in more than 50 genes have been reported to cause IHH. These mutations are estimated to account for up to 50% of all apparently hereditary cases. Identification of further causative gene mutations is expected to be more feasible with the increasing use of whole exome/genome sequencing. Presence of more than one IHH-associated mutant gene in a given patient/pedigree (oligogenic inheritance) is seen in 10-20% of all IHH cases...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29277338/hypothalamic-abnormalities-growth-failure-due-to-defects-of-the-ghrh-receptor
#10
Manuel H Aguiar-Oliveira, Caridad Davalos, Viviane C Campos, Luiz A Oliveira Neto, Cindi G Marinho, Carla R P Oliveira
Several acquired or congenital hypothalamic abnormalities may cause growth failure (GF). We described two of these congenital abnormalities. First, a case of CHARGE syndrome, an epigenetic disorder mostly caused by heterozygous mutations in the gene encoding CHD7, a chromatin remodeling protein, causing several malformations, some life-threatening, with additional secondary hypothalamus-hypophyseal dysfunction, including GF. Second, a cohort of individuals with genetic isolated severe GH deficiency (IGHD), due to a homozygous mutation in the GH-releasing hormone (GHRH) receptor gene described in Itabaianinha County, in northeast Brazil...
December 20, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29273483/growth-hormone-receptor-ghr-gene-polymorphism-and-scoliosis-in-prader-willi-syndrome
#11
Merlin G Butler, Waheeda Hossain, Maaz Hassan, Ann M Manzardo
OBJECTIVE: A growth hormone receptor (GHR) gene polymorphism impacts sensitivity to endogenous and exogenous growth hormone (GH) to moderate growth and development. Increased sensitivity may accelerate spinal growth and contribute to scoliosis, particularly in GH-deficient and treated populations such as Prader-Willi syndrome (PWS). Therefore, we examined the relationship between GHR genotype and scoliosis (case and control) in PWS cohorts. DESIGN: We utilized a case-control design in a study of 73 subjects (34M; 39F) with genetically confirmed PWS in 32 individuals previously diagnosed with moderate to severe scoliosis (mean age=16...
December 6, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29262478/-clinical-characteristics-of-thyroid-hormone-resistance-syndrome-in-two-cases-with-different-subtypes
#12
H Sun, X L Chen, T Chen, H Y Wu, R R Xie, F Y Wang, X Y Wang, L Q Chen
Objective: To analyze the clinical characteristics of children with two types of thyroid hormone resistance (RTH) syndrome, and to detect the variants of thyroid hormone receptor alpha(TRα) and TRβ gene in children. Method: Two children with RTH were reported in regard to clinical manifestation, laboratory examination and genetic variants. Some related reports in literature were reviewed. Result: Case 1 was a girl, 10 years old, with thyroid enlargement for several days and without thyrotoxicosis. Laboratory work-up revealed that free thyroxine (FT(4)) was 65...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29260252/-functional-diagnostics-in-endocrinology
#13
REVIEW
C J Auernhammer, M Reincke
When investigating many endocrinological diseases, basal laboratory parameters are not sufficient to distinguish between physiological and pathological hormone secretion. Functional diagnostics plays a decisive role in this context. Stimulation and suppression tests are used depending on whether under- or over-function needs to be diagnosed. This review article discusses selected functional tests, each of which plays an important role in current guidelines. Indications and test principles, including their performance, reliability, and limitations, are discussed...
December 19, 2017: Der Internist
https://www.readbyqxmd.com/read/29238946/papp-a2-a-new-key-regulator-of-growth
#14
Magdalena Banaszak-Ziemska, Marek Niedziela
Short stature is the main problem that paediatric endocrinologists have to grapple with. Endocrine disorders account for only 5% of patients with short stature, but this is still one of the most common causes of reports to the endocrine clinic and hospitalisation in the endocrine department. A properly functioning growth hormone/insulin-like growth factor (GH/IGF) axis is one of the most important factors in proper growth. A lot of genetic defects in this axis lead to syndromes marked by impaired growth, like Laron syndrome, muta-tions in the STAT5B, insulin-like growth factor 1 (IGF1), and insulin-like growth factor 1 receptor (IGF1R) and mutations in the acid labile subunit (ALS)...
2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/29224376/regulation-of-follicle-growth-through-hormonal-factors-and-mechanical-cues-mediated-by-hippo-signaling-pathway
#15
Ikko Kawashima, Kazuhiro Kawamura
The ovary is an interesting organ that shows major structural changes within a short period of time during each reproductive cycle. Follicle development is controlled by local paracrine and systemic endocrine factors. Many hormonal and molecular analyses have been conducted to find the mechanisms underlying structural changes in ovaries, However, exact mechanisms still remain to be determined. Recent development of mechanobiology facilitates the understanding on the contribution of physical forces and changes in the mechanical properties of cells and tissues to physiology and pathophysiology...
December 9, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29224108/negative-impact-of-testosterone-deficiency-and-5%C3%AE-reductase-inhibitors-therapy-on-metabolic-and-sexual-function-in-men
#16
Abdulmaged M Traish
Androgens are steroid hormones with pleotropic and diverse biochemical and physiological functions, and androgen deficiency exerts a negative impact on human health. Testosterone (T) either directly or via its transformation into the more potent metabolite 5α-dihydrotestosterone (5α-DHT) or via aromatization into estradiol (E2) modulates important biochemical signaling pathways of human physiology and plays a critical role in the growth and/or maintenance of functions in a host of tissues and organs. T and 5α-DHT play an important role in regulating physiology of the muscle, adipose tissue, liver, bone, and central nervous system, as well as reproductive and sexual functions...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29221463/correction-to-recessive-vars2-mutation-underlies-a-novel-syndrome-with-epilepsy-mental-retardation-short-stature-growth-hormone-deficiency-and-hypogonadism
#17
Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F Meyer, Stefan T Arold, Dorota Monies
After publication of the article [1], it has been brought to our attention that there is a nomenclature issue with this article. At the time of acceptance, the VARS2 mutation was considered equivalent to the VARS2 mutation. However, this has changed so that VARS now only refers to shorter mitochondrial sequence of valyl-tRNA synthesase containing 1093 amino acids. "Therefore, in the context of this article, every usage of "VARS2" should be replaced with "VARS" when referring to the causative variant".
December 8, 2017: Human Genomics
https://www.readbyqxmd.com/read/29217485/developmental-origins-of-adult-health-and-disease-the-metabolic-role-of-bdnf-from-early-life-to-adulthood
#18
REVIEW
Despina D Briana, Ariadne Malamitsi-Puchner
Accumulating evidence suggests that the origins of adult disease may occur during fetal life. Thus, the concept of "developmental programming" has been introduced and supported by epidemiological and experimental data. This concept supports the idea that the nutritional and hormonal status during pregnancy could interfere in metabolism control. The mechanisms responsible for this "developmental programming" remain poorly documented. Current research indicates that neurotrophins and particularly brain-derived neurotrophic factor (BDNF) may play a crucial role in this process...
December 4, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29210639/guanylate-cyclase-c-a-current-hot-target-from-physiology-to-pathology
#19
Jose Antonio Uranga, Marta Castro, Raquel Abalo
Guanylate cyclase C (GC-C) receptor is a transmembrane receptor, predominantly expressed in intestinal epithelial cells, that plays a main role in homeostasis and function of the digestive tract. The endogenous ligands for this receptor are the paracrine hormones uroguanylin and guanylin. The heat-stable enterotoxin, produced by enterotoxigenic bacteria, is also a natural ligand of this receptor. Upon ligand binding, GC-C receptors increase the second messenger cyclic guanosine monophosphate (cGMP) levels, regulating a variety of key cell-type specific processes such as chloride and bicarbonate secretion (which increases luminal fluid and intestinal motility), epithelial cell growth, regulation of intestinal barrier integrity and visceral sensitivity...
December 5, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29208626/the-effect-of-extended-release-niacin-on-markers-of-mineral-metabolism-in-ckd
#20
Rakesh Malhotra, Ronit Katz, Andrew Hoofnagle, Andrew Bostom, Dena E Rifkin, Ruth Mcbride, Jeffrey Probstfield, Geoffrey Block, Joachim H Ix
BACKGROUND AND OBJECTIVES: Niacin downregulates intestinal sodium-dependent phosphate transporter 2b expression and reduces intestinal phosphate transport. Short-term studies have suggested that niacin lowers serum phosphate concentrations in patients with CKD and ESRD. However, the long-term effects of niacin on serum phosphate and other mineral markers are unknown. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: The Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglycerides: Impact on Global Health Trial was a randomized, double-blind, placebo-controlled trial testing extended release niacin in persons with prevalent cardiovascular disease...
January 6, 2018: Clinical Journal of the American Society of Nephrology: CJASN
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