Laron syndrome with elevated serum GH-binding protein

MedGen UID:: 865142
•Concept ID:: C4016705
•: Finding

Synonym:	LARON SYNDROME WITH ELEVATED SERUM GH-BINDING PROTEIN

OMIM®:	600946

Recent clinical studies

Diagnosis

A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome.

Chen X, Song F, Dai Y, Bao X, Jin Y
J Pediatr Endocrinol Metab 2003 Oct-Nov;16(8):1183-9. doi: 10.1515/jpem.2003.16.8.1183. PMID: 14594180

Natural history of the classical form of primary growth hormone (GH) resistance (Laron syndrome).

Laron Z
J Pediatr Endocrinol Metab 1999 Apr;12 Suppl 1:231-49. PMID: 10698588

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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

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Prognosis

Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree.

Klammt J, Shen S, Kiess W, Kratzsch J, Stobbe H, Vogel M, Luo F, Pfäffle R
Clin Endocrinol (Oxf) 2015 Mar;82(3):453-61. Epub 2014 Oct 20 doi: 10.1111/cen.12606. PMID: 25196842

A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome.

Chen X, Song F, Dai Y, Bao X, Jin Y
J Pediatr Endocrinol Metab 2003 Oct-Nov;16(8):1183-9. doi: 10.1515/jpem.2003.16.8.1183. PMID: 14594180

A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein.

Woods KA, Fraser NC, Postel-Vinay MC, Savage MO, Clark AJ
J Clin Endocrinol Metab 1996 May;81(5):1686-90. doi: 10.1210/jcem.81.5.8626815. PMID: 8626815

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Clinical prediction guides

Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree.

Klammt J, Shen S, Kiess W, Kratzsch J, Stobbe H, Vogel M, Luo F, Pfäffle R
Clin Endocrinol (Oxf) 2015 Mar;82(3):453-61. Epub 2014 Oct 20 doi: 10.1111/cen.12606. PMID: 25196842

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

Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states.

Fang P, Riedl S, Amselem S, Pratt KL, Little BM, Haeusler G, Hwa V, Frisch H, Rosenfeld RG
J Clin Endocrinol Metab 2007 Jun;92(6):2223-31. Epub 2007 Apr 3 doi: 10.1210/jc.2006-2624. PMID: 17405847

A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome.

Chen X, Song F, Dai Y, Bao X, Jin Y
J Pediatr Endocrinol Metab 2003 Oct-Nov;16(8):1183-9. doi: 10.1515/jpem.2003.16.8.1183. PMID: 14594180

Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree.

Silbergeld A, Dastot F, Klinger B, Kanety H, Eshet R, Amselem S, Laron Z
J Pediatr Endocrinol Metab 1997 May-Jun;10(3):265-74. doi: 10.1515/jpem.1997.10.3.265. PMID: 9388817

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Laron syndrome with elevated serum GH-binding protein

Recent clinical studies

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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