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Article

Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX.

Endocrine journal - 1 Jun 2001

Ogata T, Onigata K, Hotsubo T, Matsuo N, Rappold G

Abstract excerpt

We report on GH (0.5 IU or 0.17 mg/kg/week) and GnRH analog (GnRHa, 60 microg/kg, every 4 weeks) therapy in SHOX haploinsufficiency. Case 1 was a 46,XY boy with microdeletion of the Y chromosomal pseudoautosomal region. At 7 years of age, he exhibited short stature (-3.9 SD) with a reduced growth rate (3.8 cm/year), short 4th metacarpals, and mild Madelung deformity. GH therapy resulted in a marked increase in...

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Source

Identifiers

PMID: 11523902
DOI: 10.1507/endocrj.48.317

Genes

SHOX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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