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Hypothalamic pituitary complications in Kabuki syndrome
Naoko Ito1, Kenji Ihara, Yasushi Tsutsumi
1Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
Pituitary
|March 22, 2012
Summary
Kabuki syndrome can affect the hypothalamic pituitary axis, leading to hormone deficiencies like growth hormone (GH) deficiency. This review highlights rare but significant endocrine complications in affected individuals.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Kabuki syndrome typically presents with distinct facial features, developmental delay, and multisystem anomalies.
- While central nervous system (CNS) abnormalities are common, hypothalamic-pituitary axis (HPA) complications are infrequently reported in Kabuki syndrome.
Purpose of the Study:
- To review and consolidate reported cases of hypothalamic-pituitary axis complications in patients with Kabuki syndrome.
- To identify the spectrum and frequency of endocrine dysfunctions associated with Kabuki syndrome.
Main Methods:
- A systematic search of published medical literature was conducted for cases of Kabuki syndrome with HPA complications.
- Data from nine previously reported patients and one new case were analyzed.
Main Results:
- Growth hormone (GH) deficiency was the most common complication, observed in six of the ten total patients.
- Other reported HPA abnormalities included precocious puberty, central diabetes insipidus (DI), and ACTH deficiency.
- Three patients showed abnormal pituitary findings on MRI; two with GH deficiency also had premature thelarche.
Conclusions:
- Kabuki syndrome patients can exhibit diverse clinical manifestations stemming from hypothalamic-pituitary axis dysfunction.
- Endocrine evaluation is crucial for individuals with Kabuki syndrome to detect and manage potential HPA abnormalities.
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