Hypothalamic pituitary complications in Kabuki syndrome.

[kabuki syndrome]

Kabuki syndrome is characterized by distinctive facial features , multiple anomalies and mental retardation . In this syndrome , structural CNS abnormalities are commonly observed , but congenital abnormalities in the pituitary gland or hypothalamus have rarely been reported . We searched the published medical literature on the complications in hypothalamic pituitary axis in this syndrome . As a result , only nine patients with Kabuki syndrome had been reported to have complications in hypothalamic pituitary axis in previous papers . Among the nine reported patients and one presented case in this report , GH deficiency was the most frequent complication and found in six patients . Precocious puberty and central diabetes insipidus (DI ) was identified in two cases , respectively , and ACTH deficiency was found in one . One case had combination of GH deficiency and central DI . Three of the 10 patients demonstrated abnormal pituitary findings in MRI study . Two of the six patients with GH deficiency were accompanied with premature thelarche . This review highlights that patients with Kabuki syndrome could present various clinical manifestations due to abnormalities in hypothalamic pituitary axis .