Cargando…

Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report

BACKGROUND: A case of isolated growth hormone deficiency type IA (IGHD IA) caused by novel compound heterozygous mutation in the GH1 gene was reported in this study, which aimed to provide insights that will benefit future diagnosis and treatment. CASE PRESENTATION: We analyzed and summarized the cl...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yang, Xi, Yuan, Mingming, Li, Zhuoguang, Ying, Yanqin, Hou, Ling, Luo, Xiaoping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411534/ https://www.ncbi.nlm.nih.gov/pubmed/34470639 http://dx.doi.org/10.1186/s12920-021-01057-z

Ejemplares similares

Clinical challenges in the management of isolated GH deficiency type IA in adulthood
por: Casteràs, Anna, et al.
Publicado: (2014)

Gonadotropin-releasing hormone analogue and recombinant human growth hormone treatment for idiopathic central precocious puberty in girls
por: Shi, Yuzhen, et al.
Publicado: (2022)

Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report
por: Kautsar, Ahmad, et al.
Publicado: (2019)

Diagnosis of growth hormone (GH) deficiency: comparison of pituitary stalk interruption syndrome and transient GH deficiency
por: Louvel, Murielle, et al.
Publicado: (2009)

Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome
por: Li, Zhuoguang, et al.
Publicado: (2020)

Impact of Growth Hormone (GH) Deficiency and GH Replacement upon Thymus Function in Adult Patients
por: Morrhaye, Gabriel, et al.
Publicado: (2009)

No Improvement of Adult Height in Non-growth Hormone (GH) Deficient Short Children with GH Treatment
por: Tanaka, Toshiaki, et al.
Publicado: (2006)

Accuracy and Limitations of the Growth Hormone (GH) Releasing Hormone-Arginine Retesting in Young Adults With Childhood-Onset GH Deficiency
por: Patti, Giuseppa, et al.
Publicado: (2019)

Favorable Impacts of Growth Hormone (GH) Replacement Therapy on Atherogenic Risks in Japanese Children with GH Deficiency
por: Kohno, Hitoshi, et al.
Publicado: (2012)

Prevalence of growth hormone (GH) deficiency in previously GH‐treated young adults with Prader‐Willi syndrome
por: Donze, Stephany H., et al.
Publicado: (2019)

Growth Hormone (GH) Therapy During the Transition Period: Should We Think about Early Retesting in Patients with Idiopathic and Isolated GH Deficiency?
por: Penta, Laura, et al.
Publicado: (2019)

Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height
por: Prodam, Flavia, et al.
Publicado: (2014)

LUM-201 Elicits Greater GH Response than Standard GH Secretagogues in Pediatric Growth Hormone Deficiency
por: Bright, George, et al.
Publicado: (2021)

Growth Hormone (GH) Treatment Decreases Plasma Kisspeptin Levels in GH-Deficient Adults with Prader–Willi Syndrome
por: Giménez-Palop, Olga, et al.
Publicado: (2021)

Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in the GH1 Gene
por: Ghosh, Sayan, et al.
Publicado: (2021)

Two Siblings with Isolated GH Deficiency Due to Loss−of−Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation
por: Şıklar, Zeynep, et al.
Publicado: (2010)

Association of change on insulin-like growth factor (IGF)-i and IGF-binding protein 3 with genetic markers after a month of growth hormone (GH) therapy on Chinese children born with GH deficiency
por: Wang, Wei, et al.
Publicado: (2013)

Short and Long-Term Effects of Growth Hormone in Children and Adolescents With GH Deficiency
por: Ranke, Michael B.
Publicado: (2021)

Effects of Growth Hormone (GH) Supplementation on Dermatoscopic Evolution of Pigmentary Lesions in Children with Growth Hormone Deficiency (GHD)
por: Panarese, Fabrizio, et al.
Publicado: (2022)

Thyroid function in children with growth hormone (GH) deficiency during the initial phase of GH replacement therapy - clinical implications
por: Smyczynska, Joanna, et al.
Publicado: (2010)

Isolation and Characterization of the Arapaima gigas Growth Hormone (ag-GH) cDNA and Three-Dimensional Modeling of This Hormone in Comparison with the Human Hormone (hGH)
por: Lima, Eliana Rosa, et al.
Publicado: (2023)

Growth Hormone (GH) and Cardiovascular System
por: Caicedo, Diego, et al.
Publicado: (2018)

Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone
por: Wu, Shimin, et al.
Publicado: (2022)

Long-term Safety of Growth Hormone in Adults With Growth Hormone Deficiency: Overview of 15 809 GH-Treated Patients
por: Johannsson, Gudmundur, et al.
Publicado: (2022)

Effect of Arginine Infusion on Ghrelin Secretion in Growth Hormone Sufficient and GH Deficient Children
por: Prodam, Flavia, et al.
Publicado: (2012)

Adherence in children with growth hormone deficiency treated with r-hGH and the easypod™ device
por: Loche, S., et al.
Publicado: (2016)

Decreased Thyroxine Levels during rhGH Therapy in Children with Growth Hormone Deficiency
por: Witkowska-Sędek, Ewelina, et al.
Publicado: (2021)

Walking and postural balance in adults with severe short stature due to isolated GH deficiency
por: Santana-Ribeiro, Ananda A, et al.
Publicado: (2019)

Growth hormone (GH)–releasing hormone and GH secretagogues in normal aging: Fountain of Youth or Pool of Tantalus?
por: Hersch, Elizabeth C, et al.
Publicado: (2008)

Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant
por: Labello, Julia Haddad, et al.
Publicado: (2022)

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study
por: Cannarella, Rossella, et al.
Publicado: (2021)

Growth Hormone (GH) Hypersecretion and GH Receptor Resistance in Streptozotocin Diabetic Mice in Response to a GH Secretagogue
por: Johansen, Peter B., et al.
Publicado: (2003)

GH1 C.291 + 34G>C in a Growth Hormone Deficient Pedigree
por: Vidal, Katherine, et al.
Publicado: (2021)

Macimorelin (AEZS-130)-Stimulated Growth Hormone (GH) Test: Validation of a Novel Oral Stimulation Test for the Diagnosis of Adult GH Deficiency
por: Garcia, J. M., et al.
Publicado: (2013)

Functional changes of the liver in the absence of growth hormone (GH) action – Proteomic and metabolomic insights from a GH receptor deficient pig model
por: Riedel, Evamaria O., et al.
Publicado: (2020)

Effectiveness, economical and safety aspects of growth hormone (GH) therapy in growth promoting doses in patients with isolated GH deficiency after the attainment of near-final height. Is there a need to modify the criteria of therapy withdrawal?
por: Smyczyńska, Joanna, et al.
Publicado: (2021)

Genetic determinants of growth hormone and GH-related phenotypes
por: Hallengren, Erik, et al.
Publicado: (2017)

Effects of recombinant growth hormone (GH) replacement and psychomotor and cognitive stimulation in the neurodevelopment of GH-deficient (GHD) children with cerebral palsy: a pilot study
por: Devesa, Jesús, et al.
Publicado: (2011)

Adherence to growth hormone (GH) therapy in naïve to treatment GH-deficient children: data of the Italian Cohort from the Easypod Connect Observational Study (ECOS)
por: Centonze, C., et al.
Publicado: (2019)

Growth hormone (GH)‐transgenic insulin‐like growth factor 1 (IGF1)‐deficient mice allow dissociation of excess GH and IGF1 effects on glomerular and tubular growth
por: Blutke, Andreas, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_br13d9r2je6q3dpcuqla6bf992