An Infant Case of Pallister-Hall Syndrome Treated with Hormone Replacement

Ayako Shimizu; Ei Shimazaki; Kan Tooyama; Tetsuo Mori; Yousuke Miyairi; Hiroaki Shigeta

doi:10.1297/cpe.11.29

Originals

An Infant Case of Pallister-Hall Syndrome Treated with Hormone Replacement

Ayako Shimizu, Ei Shimazaki, Kan Tooyama, Tetsuo Mori, Yousuke Miyairi, Hiroaki Shigeta

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Keywords: Pallister-Hall syndrome, hypothalamic hamartoblastoma, hypopituitarism, dysplastic metacarpals, micropenis

JOURNAL FREE ACCESS

2002 Volume 11 Issue 1 Pages 29-32

DOI https://doi.org/10.1297/cpe.11.29

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Abstract

Pallister-Hall syndrome was first described by Hall et al. in 1980. This syndrome is characterized by hypothalamic hamartoblastoma, hypopituitarism, polydactyly, imperforate anus and other anomalies. We report a case of a male infant with hypothalamic tumor, hypopituitarism, dysplastic metacarpals, micropenis and remarkable hypoglycemia. He has been treated with hydrocortisone, thyroid hormone, NaCl, fludrocortisone acetate and GH. He has grown well on this therapy.

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