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Growth hormone syndrome

Huihui Sun, Naijun Wan, Xinli Wang, Liang Chang, Dazhi Cheng
18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions...
March 16, 2018: Cytogenetic and Genome Research
Joachim Woelfle, Anders Lindberg, Ferah Aydin, Ken K Ong, Cecilia Camacho-Hubner, Bettina Gohlke
Background: Whether children with chromosomal disorders of growth and puberty are affected by secular trends (STs) as observed in the general population remains unanswered, but this question has relevance for expectations of spontaneous development and treatment responses. Objectives: The aim of the study was to evaluate STs in birth parameters, growth, and pubertal development in girls with Turner syndrome (TS). Study design: Retrospective analysis of KIGS data (Pfizer International Growth Database)...
2018: Frontiers in Endocrinology
Lucia Negri, Napoleone Ferrara
The mammalian prokineticins family comprises two conserved proteins, EG-VEGF/PROK1 and Bv8/PROK2, and their two highly related G protein-coupled receptors, PKR1 and PKR2. This signaling system has been linked to several important biological functions, including gastrointestinal tract motility, regulation of circadian rhythms, neurogenesis, angiogenesis and cancer progression, hematopoiesis, and nociception. Mutations in PKR2 or Bv8/PROK2 have been associated with Kallmann syndrome, a developmental disorder characterized by defective olfactory bulb neurogenesis, impaired development of gonadotropin-releasing hormone neurons, and infertility...
April 1, 2018: Physiological Reviews
Dimitrios Askitis, Damianos Tsitlakidis, Nicolle Müller, Albrecht Waschke, Gunter Wolf, Ulrich Alfons Müller, Christof Kloos
INTRODUCTION: We retrospectively evaluated all patients with pituitary tumours treated in our department from 1/1/1997 to 01/11/2014. PATIENTS AND METHODS: Two hundred and fifteen patients (124 females, 91 males, mean age 50.9 years) were treated because of pituitary tumours. All patients underwent basal hormonal analysis and when required dynamic testing in order to check for hormonal activity. Pituitary masses were divided into groups concerning their hormonal status and were further classified according to gender, age at diagnosis, tumour size, and the development of postoperative pituitary insufficiency when neurosurgical intervention was conducted...
March 12, 2018: Endocrine
Thierry Brue, Vincent Amodru, Frédéric Castinetti
With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or hypokalemia, while plasma cortisol and urinary free cortisol may rise up to 2-3-fold. While the dexamethasone suppression test is difficult to use, reference values for salivary cortisol appear valid. The predominant cause is adrenal adenoma (sometimes without decreased ACTH), rather than Cushing's disease. There are considerable imaging pitfalls in Cushing's disease...
March 9, 2018: European Journal of Endocrinology
Maryam Razzaghy-Azar, Mitra Nourbakhsh, Mona Nourbakhsh
BACKGROUND: Cyproheptadine HCl (CyproH) is an appetite stimulating drug and while it was prescribed for a patient with growth hormone insensitivity syndrome (GHIS) for increasing appetite, his height growth was surprisingly increased. Therefore the aim of this study was to investigate the effect of CyproH on growth parameters of the patients with GHIS. PATIENTS AND DESIGN: Twenty patients were enrolled in two prospective cohorts at two different times. Fifteen cases were observed for 1...
March 9, 2018: Clinical Endocrinology
Eugènia Moix Gil, Olga Giménez-Palop, Assumpta Caixàs
INTRODUCTION: The Prader-Willi syndrome (PWS) is a rare genetic disorder caused by absence of expression of the paternal alleles in región 15q11.2-q13. Obesity and hormonal deficiencies, especially of growth hormone (GH), are the most important signs from the therapeutic viewpoint. Recombinant GH (rGH) is effective in children and represents the mainstay in treatment; by contrast, little evidence in available in adult patients. OBJECTIVE: To review the reported evidence on the beneficial and adverse effects of treatment with rGH in children and adults...
March 3, 2018: Endocrinología, Diabetes y Nutrición
Matthias K Auer, Mareike R Stieg, Alexander Crispin, Caroline Sievers, Günter K Stalla, Anna Kopczak
BACKGROUND: Empty sella is the neuroradiological or pathological finding of an apparently empty sella turcica containing no pituitary tissue. The prevalence of primary empty sella, i.e., empty sella without any discernible cause, is not precisely known; estimates range from 2% to 20%. Technical advances in neuroradiology have made empty sella an increasingly common incidental finding. It remains unclear whether, and to what extent, asymptomatic adult patients with an incidentally discovered empty sella should undergo diagnostic testing for hormonal disturbances...
February 16, 2018: Deutsches Ärzteblatt International
Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo
BACKGROUND: Adrenal hypoplasia is a rare congenital disorder, which can be classified into a non-syndromic form, without extra-adrenal features, and a syndromic form, with such features. Despite biochemical and molecular genetic evaluation, etiologic diagnosis cannot be performed in many patients with adrenal hypoplasia. CASE PRESENTATION: The patient in this case was a boy born at 31 weeks of gestation with a weight of 882 g (< 3rd percentile) to non-consanguineous parents...
March 5, 2018: BMC Medical Genetics
John M McCarthy, Bonnie M McCann-Crosby, Megan E Rech, Jiani Yin, Chun-An Chen, May A Ali, HaiThuy N Nguyen, Jennifer L Miller, Christian P Schaaf
BACKGROUND: Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties and autism spectrum disorder. Prader-Willi syndrome (PWS) is a genetic disorder characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and short stature...
March 1, 2018: Journal of Medical Genetics
Agathocles Tsatsoulis
Thyroid follicular cells, as well as adrenocortical cells, are endowed by an intrinsic heterogeneity regarding their growth potential, in response to various stimuli. This heterogeneity appears to constitute the underlying cause for the focal cell hyperplasia and eventually the formation of thyroid and adrenal nodules, under the influence of growth stimulatory factors. Among the main stimulatory factors are the pituitary tropic hormones, thyroid-stimulating hormone (TSH) or thyrotropin and adrenocorticotropic hormone (ACTH), which regulate the growth and function of their respective target cells, and the insulin/insulin-like growth factor system, that, through its mitogenic effects, can stimulate the proliferation of these cells...
February 26, 2018: Journal of Clinical Medicine
Brenna A M Velker, Michelle M Denomme, Robert T Krafty, Mellissa R W Mann
Assisted reproductive technologies are fertility treatments used by subfertile couples to conceive their biological child. Although generally considered safe, these pregnancies have been linked to genomic imprinting disorders, including Beckwith-Wiedemann and Silver-Russell Syndromes. Silver-Russell Syndrome is a growth disorder characterized by pre- and post-natal growth retardation. The Mest imprinted domain is one candidate region on chromosome 7 implicated in Silver-Russell Syndrome. We have previously shown that maintenance of imprinted methylation was disrupted by superovulation or embryo culture during pre-implantation mouse development...
July 2017: Environmental Epigenetics
Qiping Hu, Hongyan Chai, Wei Shu, Peining Li
Background: Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific phenotypes likely result from segmental losses and gains during the ring formation. Although recent applications of genomic copy number and sequencing analyses revealed various ring chromosome structures from an increasing number of case studies, there was no organized effort for compilating and curating cytogenomic and clinical finding for ring chromosomes...
2018: Molecular Cytogenetics
Sebastian Silva, Noriko Miyake, Carolina Tapia, Naomichi Matsumoto
Prolyl endopeptidase-like (PREPL) deficiency (MIM# 616224) is a rare autosomal recessive inherited congenital myasthenic syndrome characterized by neonatal hypotonia, feeding problems, mild dysmorphism, and neuromuscular symptoms, followed by hyperphagia and obesity in later childhood. Some patients also exhibit growth deficits, sexual hormone deficiency, and cognitive impairments. This syndrome is caused by biallelic mutations in PREPL. To date, only one nucleotide deletion and seven small microdeletions in PREPL have been reported...
February 26, 2018: Journal of Human Genetics
Alisa Domnina, Polina Novikova, Julia Obidina, Irina Fridlyanskaya, Larisa Alekseenko, Irina Kozhukharova, Olga Lyublinskaya, Valeriy Zenin, Nikolay Nikolsky
BACKGROUND: Asherman's syndrome (AS) is one of the gynecological disorders caused by the destruction of the endometrium. For some cases of AS available surgical methods and hormonal therapy are ineffective. Stem cell transplantation may offer a potential alternative for AS cure. METHODS: Human endometrial mesenchymal stem cells (eMSC) organized in spheroids were transplanted in rats with damaged endometrium modeled on AS. Treatment response was defined as pregnancy outcome and litter size...
February 26, 2018: Stem Cell Research & Therapy
Honghao Yu, Weihu Long, Xuezeng Zhang, Kaixiang Xu, Jianxiong Guo, Heng Zhao, Honghui Li, Yubo Qing, Weirong Pan, Baoyu Jia, Hong-Ye Zhao, Xingxu Huang, Hong-Jiang Wei
BACKGROUND: Laron syndrome is an autosomal disease resulting from mutations in the growth hormone receptor (GHR) gene. The only therapeutic treatment for Laron syndrome is recombinant insulin-like growth factor I (IGF-I), which has been shown to have various side effects. The improved Laron syndrome models are important for better understanding the pathogenesis of the disease and developing corresponding therapeutics. Pigs have become attractive biomedical models for human condition due to similarities in anatomy, physiology, and metabolism relative to humans, which could serve as an appropriate model for Laron syndrome...
February 27, 2018: Journal of Translational Medicine
Anara Karaca, Vijayram Reddy Malladi, Yan Zhu, Olta Tafaj, Elena Paltrinieri, Joy Y Wu, Qing He, Murat Bastepe
GNAS mutations leading to constitutively active stimulatory G protein alpha-subunit (Gsα) cause different tumors, fibrous dysplasia of bone, and McCune-Albright syndrome, which are typically not associated with short stature. Enhanced signaling of the parathyroid hormone/parathyroid hormone-related peptide receptor, which couples to multiple G proteins including Gsα, leads to short bones with delayed endochondral ossification. It has remained unknown whether constitutive Gsα activity also impairs bone growth...
February 20, 2018: Bone
Ece Nur Degirmentepe, Sule Gungor, Emek Kocaturk, Utkan Kiziltac, Mine Adas, Selver Ozekinci, Amor Khachemoune
Acromegaly is a systemic syndrome caused by overproduction of growth hormone. Cutaneous, endocrine, cardiovascular, skeletal, and respiratory systems are affected. Cutaneous changes in acromegaly relate to overexpression of growth hormone and insulin-like growth factor 1 on skin cells and adnexa. Dermal glycosaminoglycan accumulation and edema cause skin distention that is most prominent in the face, hands, and feet. Oily skin with large pores, hypertrichosis, and excessive sweating are common features. Pigmented skin tags, acanthosis nigricans, and psoriasis are also encountered...
August 15, 2017: Dermatology Online Journal
Jana Volejnikova, Jirina Zapletalova, Marie Jarosova, Helena Urbankova, Vojta Petr, Eva Klaskova, Marshall S Horwitz, Marian Hajduch, Vladimir Mihal
BACKGROUND: Leri-Weill syndrome (LWS) ranks among conditions with short stature homeobox gene (SHOX) haploinsufficiency. Data on possible association of SHOX aberrations with malignant diseases are scarce. METHODS AND RESULTS: We report a unique case of an 8-year-old girl who was successfully treated for acute lymphoblastic leukemia (pre-B ALL, intermediate risk) and was subsequently diagnosed with LWS due to characteristic clinical appearance (short disproportionate stature, Madelung deformity of the wrist) and molecular genetic examination (complete deletion of SHOX)...
February 21, 2018: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
Alon Eliakim
The Pediatric Exercise Science "Year That Was" section aims to highlight the most important (to the author's opinion) manuscripts that were published in 2017 in the field of endocrinology and pediatric exercise science. This year's selection includes studies showing that 1) in pubertal swimmers, there is a decrease in insulin-like growth factor-1 (IGF-I) and IGF-binding protein-3 (IGFBP-3) during intense training (a catabolic-type hormonal response) with an anabolic "rebound" characterized by a significant increase of these growth factors during training tapering down...
February 22, 2018: Pediatric Exercise Science
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