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Hypothalamic pituitary complications in Kabuki syndrome

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Abstract

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.

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Abbreviations

AVP:

Arginine-vasopressin

CNS:

Central nervous system

DDAVP:

1-deamino-8-d-arginine vasopressin

DI:

Diabetes insipidus

eGFR:

Estimated glomerular filtration rate

GH:

Growth hormone

MLL:

Mixed lineage leukemia

MRI:

Magnetic resonance imaging

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Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan

    Naoko Ito, Kenji Ihara, Yasushi Tsutsumi & Toshiro Hara

  2. Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan

    Noriko Miyake & Naomichi Matsumoto

Authors
  1. Naoko Ito
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  2. Kenji Ihara
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  3. Yasushi Tsutsumi
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  4. Noriko Miyake
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  5. Naomichi Matsumoto
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  6. Toshiro Hara
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Corresponding author

Correspondence to Kenji Ihara.

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Ito, N., Ihara, K., Tsutsumi, Y. et al. Hypothalamic pituitary complications in Kabuki syndrome. Pituitary 16, 133–138 (2013). https://doi.org/10.1007/s11102-012-0386-8

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