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Article

LHX4 Gene Alterations: Patient Report and Review of the Literature.

Pediatric endocrinology reviews : PER - 1 Jun 2016

Gucev Zoran, Tasic Velibor, Plaseska-Karanfilska Dijana, Konstantinova Marina Krstevska, Stamatova Ana, Dimishkovska Marija, Laban Nevenka, Polenakovic Momir

Abstract excerpt

LHX4 mutations are rare in combined pituitary hormone deficiency, and even rarer in isolated GHD. We describe a 14 years old boy who was referred for investigation of short stature. Convergent strabismus, nystagmus was present. At the age of 5 years his gait was unstable. A progressive myopathy ensued. Tests of pituitary reserve showed partial IGHD (8.2 ng/ml). Other pituitary hormones were within normal range....

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Identifiers

PMID: 27464418

Genes

LHX4

Variants

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LHX4 Gene Alterations: Patient Report and Review of the Literature.PMID 27464418Read ↗

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Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone DeficienciesSemantic proximity Read ↗

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Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient with<i>LHX4</i>DeletionSemantic proximity Read ↗

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.Semantic proximity Read ↗

Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive<i>LHX4</i>MutationSemantic proximity Read ↗

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