STAT5b, IGF1 gene mutation, ALS deficiency, IGF-1 receptor mutation, familial short stature, malnutrition, hepatic disease, congenital growth delay, hypopituitarism[1]
Treatment
IGF-1, Mecasermin[3]
Frequency
1–9 / 1,000,000 (approximately 250 known cases worldwide) [4][5]
Laron syndrome (LS), also known as growth hormone insensitivity or growth hormone receptor deficiency (GHRD), is an autosomal recessive disorder characterized by a lack of insulin-like growth factor 1 (IGF-1; somatomedin-C) production in response to growth hormone (GH; hGH; somatotropin).[6] It is usually caused by inherited growth hormone receptor (GHR) mutations.[2][6]
Affected individuals classically present with short stature between −4 and −10 standard deviations below median height, obesity, craniofacial abnormalities, micropenis, low blood sugar, and low serum IGF-1 despite elevated basal serum GH.[7][5][8]
LS is a very rare condition with a total of 250 known individuals worldwide.[4][5] The genetic origins of these individuals have been traced back to Mediterranean, South Asian, and Semitic ancestors, with the latter group comprising the majority of cases.[5] Molecular genetic testing for growth hormone receptor gene mutations confirms the diagnosis of LS, but clinical evaluation may include laboratory analysis of basal GH, IGF-1 and IGFBP levels, GH stimulation testing, and/or GH trial therapy. Treatment options include recombinant IGF-1 (Mecasermin).[3]
Evidence has suggested that people with Laron syndrome have a reduced risk of developing cancer and diabetes mellitus type II, with a significantly reduced incidence and delayed age of onset of these diseases compared to their unaffected relatives.[9][10] The molecular mechanisms of increased longevity and protection from age-related disease among people with LS is an area of active investigation.[11]
^ abLaron Z, Kopchick J (25 November 2010). Laron Syndrome - From Man to Mouse: Lessons from Clinical and Experimental Experience. Springer Science & Business Media. pp. 3–6. ISBN 978-3-642-11183-9. Retrieved 10 November 2020.
^ abcdHamosh A, O'Neill M, Phillips J, McKusick V. "# 262500 LARON SYNDROME". omim.org. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine. Retrieved 10 November 2020.
^ abGrimberg A, DiVall SA, Polychronakos C (2016). "Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency". Hormone Research in Paediatrics. 86 (6): 361–397. doi:10.1159/000452150. PMID 27884013. S2CID 5798925.
^ abLeger J. "ORPHA:633". orpha.net. Retrieved 30 October 2020.
^ abcdRosenbloom AL (13 November 2019). "Growth Hormone Resistance". Medscape Reference. Retrieved 3 November 2020.
^ abLaron Z (2004). "Laron Syndrome (Primary Growth Hormone Resistance or Insensitivity): The Personal Experience 1958–2003". The Journal of Clinical Endocrinology & Metabolism. 89 (3): 1031–1044. doi:10.1210/jc.2003-031033. ISSN 0021-972X. PMID 15001582.
^Laron Z, Ginsberg S, Lilos P, Arbiv M, Vaisman N (2006). "Body composition in untreated adult patients with Laron syndrome (primary GH insensitivity)". Clin. Endocrinol. 65 (1): 114–7. doi:10.1111/j.1365-2265.2006.02558.x. PMID 16817829. S2CID 11524548.
^Murray PG, Clayton PE (16 November 2016). Disorders of Growth Hormone in Childhood. MDText.com, Inc. PMID 25905205. Retrieved 3 November 2020.
^Laron Z, Kopchick J (25 November 2010). Laron Syndrome - From Man to Mouse: Lessons from Clinical and Experimental Experience. Springer Science & Business Media. pp. 339, 341. ISBN 978-3-642-11183-9.
^Laron Z, Kauli R, Lapkina L, Werner H (2017). "IGF-I deficiency, longevity and cancer protection of patients with Laron syndrome". Reviews in Mutation Research. 772 (123–133): 123–133. doi:10.1016/j.mrrev.2016.08.002. PMID 28528685.
^Werner H, Lapkina-Gendler L, Laron Z (2017). "Fifty years on: New lessons from the laron syndrome". Israel Medical Association Journal. 19 (1): 6–7. PMID 28457105.
Laronsyndrome (LS), also known as growth hormone insensitivity or growth hormone receptor deficiency (GHRD), is an autosomal recessive disorder characterized...
Liora; Laron, Zvi (2007). "Comparative skeletal features between Homo floresiensis and patients with primary growth hormone insensitivity (Laronsyndrome)"...
University. In 1966, he described the type of dwarfism later called Laronsyndrome. His research opened the way to the treatment of many cases of growth...
with deficiency (such as that observed in growth hormone deficiency or Laronsyndrome) at critical developmental stages having the potential to result in...
the pituitary gland, Turner's syndrome, poor nutrition, or even stress (leading to psychogenic dwarfism). Laronsyndrome (growth hormone insensitivity)...
GH/IGF-1 signaling in pubertal breast development however, women with Laronsyndrome, in whom the growth hormone receptor (GHR) is defective and insensitive...
high as 17% in women with reproductive diseases, such as polycystic ovary syndrome. In cases of tumor-related hyperprolactinemia, prolactinoma is the most...
American singer, songwriter and musician Zvi Laron (born 1927), Israeli paediatric endocrinologist Laronsyndrome, a medical disorder This page or section...
1210/jc.2003-030219. PMID 12915646. Lurie R, Ben-Amitai D, Laron Z (2004). "LaronSyndrome (Primary Growth Hormone Insensitivity): A Unique Model to Explore...
with Laronsyndrome (a rare form of dwarfism) were monitored alongside their non-dwarf kin for a period of ten years. Patients with Laronsyndrome possess...
develop in individuals with complete androgen insensitivity syndrome (CAIS) or Laronsyndrome (insensitivity to GH, resulting in very low IGF-1 levels)...
IGF-I deficiency, for instance due to growth hormone deficiency or Laronsyndrome (growth hormone insensitivity). Mecasermin has a biological half-life...
chickens is a form of growth hormone resistance that resembles the Laronsyndrome in humans, characterized by reductions in stature and plasma insulin-like...
in this gene have been associated with Laronsyndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short...
participated in other studies that refute the idea that LB1 had Laronsyndrome or Down syndrome. Today, most experts do not think that LB1 was a diseased human...
cancer (found also among Hispanos of the Southwestern United States) and Laronsyndrome (found also among Ecuadorians). The mutations are found in Ashkenazi...
mammalian model for Laronsyndrome produced by targeted disruption of the mouse growth hormone receptor/binding protein gene (the Laron mouse)". Proceedings...
mice and humans. These studies have also shown that individuals with Laronsyndrome, an autosomal recessive disorder resulting in dwarfism due to defects...
sensitivity to its action. Insensitivity to GH is traditionally termed Laron dwarfism, but over the last 15 years many different types of GH resistance...
Tourette's syndrome. In 2013, Mee was found guilty of first-degree murder and sentenced to life in prison without parole. Her co-defendants – Laron Raiford...
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