ESPE Abstracts (2016) 86 P-P2-677

LHX-4 Gene Mutation in a Boy with Hypopituitarism and Severe Congenital Myopathy

Zoran Guceva, Velibor Tasica, Dijana Plasevska-Karanfilskab, Ana Stamatovaa, Nevenka Labanc & Momir Polenakovicb

aMedical Faculty, University Children’s Hospital, Skopje, Macedonia; bMacedonian Academy of Sciences and Arts, Skopje, Macedonia; cClinic for Endocrinology and Metabolism, Skopje, Macedonia

Background: LHX4 mutations are rare in combined pituitary hormone deficiency, and even rarer in isolated GHD.

Objective and hypotheses: We describe a 14 years old boy who was referred for investigation of short stature.

Methods and Results: 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. Muscle biopsy showed congenital myopathy of undefined aetiology. MRI of the brain revealed the empty sella syndrome. Targeted resequencing with a panel containing probe sets for enrichment and analysis of >4800 clinically relevant genes, targeting 12 Mb of the human genome revealed the c.250C>T (p.Arg84Cys) LHX4 mutation in the propositus. His father is healthy, with no myopathy or pituitary deficiencies, but has the same LHX4 mutation.

Conclusion: This report extends the range of phenotypes associated with LHX4 gene mutations. To the best of our knowledge, we are the first to report on congenital myopathy in an LHX4 gene mutation.

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