Pituitary gland insufficiency (hypopituitarism) is a clinical condition that results in inadequate production and release of pituitary hormones. The deficiency of one or more pituitary hormones is named partial hypopituitarism and the deficiency of all pituitary hormones is named panhypopituitarism. Hypopituitarism can be attributed to inherited or acquired causes. Our aim was to determine the molecular diagnosis in our panhypopituitarism patient with HESX1 gene sequence analysis.
A 21-year-old woman was referred to our clinic with primary amenorrhea. Her medical history included use of growth hormone, thyroid hormone, and estrogen. Cranial MRI findings were consistent with empty sella syndrome. In the family history of the case, there was no consanguinity between the parents and no similar patient in the family. Based on findings and laboratory results, the diagnosis of panhypopituitarism was considered; HESX1 gene sequence analysis from patient’s peripheral blood revealed a heterozygous p.R128K mutation.
HESX1, POU1F1, PROP1, LHX4, LHX3, and OTX2 genes have been associated with combined pituitary hormone deficiencies to date. The R128K mutation in the HESX1 gene has not been previously reported, and in silico predictions for that mutation suggested that this might be the disease-causing variant. This case report provides a contribution to the literature by defining a new mutation in HESX1 gene.