Journal of pediatric endocrinology & metabolism : JPEM · 2011
A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies.
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Durmaz Burak, Cogulu Ozgur, Dizdarer Ceyhun, Stobbe Heike, Pfaeffle Roland, Ozkinay Ferda
Аннотация
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.
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.