A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies

作者:Durmaz Burak*; Cogulu Ozgur; Dizdarer Ceyhun; Stobbe Heike; Pfaeffle Roland; Ozkinay Ferda
来源:Journal of Pediatric Endocrinology & Metabolism, 2011, 24(9-10): 779-782.
DOI:10.1515/JPEM.2011.162

摘要

Objective: There are many genes reported to have been associated with combined pituitary hormone deficiencies, but mutations in HESX1 strongly correlate with septo-optic dysplasia. Our aim was to determine the cause of panhypopituitarism in our patient. Patients and methods: We studied an 8-month-old child having panhypopituitarism. The coding exons of PIT1, PROP1, LHX3, and HESX1 genes were amplified. Direct sequencing was done after denaturing HLPC. Results: We identified a novel homozygous mutation (R160H) within the homeodomain of HESX1, which, to our knowledge, is the first to be described in humans. Neuroimaging studies revealed anterior pituitary aplasia, a normal posterior pituitary gland, and a thin pituitary stalk but no midline abnormalities. Optic nerve studies showed no pathology. This mutation is also carried in the parents of the affected child in a heterozygous pattern, suggesting an autosomal recessive inheritance. Conclusion: These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects.

  • 出版日期2011-10