Noonan Syndrome: Auxological and Endocrinological Investigation
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概要
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We have analyzed the auxological and endocrinological data of nine Japanese patients (5 male, 4 female) with Noonan syndrome, and have started growth hormone (GH) therapy in four patients. Eight children were short (height SD score -2.70 to -4.88). The growth curve for height of nine patients with this syndrome followed below normal or along -2.0SD curve, and three males who attained adulthood had a tendency to delayed puberty.<BR>The GH response to standard provocation tests done in seven patients was almost normal with normal levels of urine GH excretion, but four of seven showed low levels of plasma insulin-like growth factor-I (IGF-I). Mean concentrations of serum GH during the first three hours of sleep were normal in three patients and low in one. The discrepancy of GH and IGF-I may suggest some dysfunction of GH and IGF-I axis.<BR>We treated four patients with GH in doses of 0.5 iu per kg weight per week. Three of them showed increased height velocity, and two of these showed increased height velocity SD. One male, who started GH therapy during puberty, showed no improvement of height velocity or height velocity SD. During GH therapy one male had a convulsion, another male had arthrosis of the jaw, and one female had pains in her knee joints. However, their symptoms were all transient.<BR>We conclude that GH therapy in Noonan syndrome is effective if started earlier than puberty, without any major side-effects.
- 日本小児内分泌学会の論文
日本小児内分泌学会 | 論文
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