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Laron syndrome with undetectable serum GH-binding protein

MedGen UID:
865143
•Concept ID:
C4016706
•
Finding
Synonym: LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
 
OMIM®: 600946

Recent clinical studies

Therapy

A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.
Feigerlova E, Swinyard M, Derr MA, Farnsworth J, Andrew SF, Rosenfeld RG, Hwa V
Horm Res Paediatr 2013;80(6):397-405. Epub 2013 Nov 26 doi: 10.1159/000355404. PMID: 24296660
Effects of 17 months treatment using recombinant insulin-like growth factor-I in two children with growth hormone insensitivity (Laron) syndrome.
Heinrichs C, Vis HL, Bergmann P, Wilton P, Bourguignon JP
Clin Endocrinol (Oxf) 1993 Jun;38(6):647-51. doi: 10.1111/j.1365-2265.1993.tb02149.x. PMID: 8334752

Clinical prediction guides

A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.
Feigerlova E, Swinyard M, Derr MA, Farnsworth J, Andrew SF, Rosenfeld RG, Hwa V
Horm Res Paediatr 2013;80(6):397-405. Epub 2013 Nov 26 doi: 10.1159/000355404. PMID: 24296660
Effects of 17 months treatment using recombinant insulin-like growth factor-I in two children with growth hormone insensitivity (Laron) syndrome.
Heinrichs C, Vis HL, Bergmann P, Wilton P, Bourguignon JP
Clin Endocrinol (Oxf) 1993 Jun;38(6):647-51. doi: 10.1111/j.1365-2265.1993.tb02149.x. PMID: 8334752
Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome).
Savage MO, Blum WF, Ranke MB, Postel-Vinay MC, Cotterill AM, Hall K, Chatelain PG, Preece MA, Rosenfeld RG
J Clin Endocrinol Metab 1993 Dec;77(6):1465-71. doi: 10.1210/jcem.77.6.7505286. PMID: 7505286

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