Article
Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.
American journal of medical genetics. Part A - 1 Oct 2015
Takasawa Kei, Takishima Shigeru, Morioka Chikako, Nishioka Masato, Ohashi Hirofumi, Aoki Yoko, Shimohira Masayuki, Kashimada Kenichi, Morio Tomohiro
Abstract excerpt
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) is caused by a heterozygous c.4A>G mutation in SHOC2. Most cases exhibit both growth hormone deficiency (GHD) and growth hormone insensitivity (GHI) and thus require a high dose of growth hormone (GH) therapy (e.g., 35-40 µg/kg/day). We report on a genetically diagnosed NS/LAH patient manifesting severe short stature (-3.85 SDs) with low serum...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
