title: 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.
abstract: 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 level of IGF1, 30 ng/ml. The peak levels of GH stimulation tests were within the normal range, and GHI was not observed in the IGF1 generation test. However, with low-dose GH therapy (25 µg/kg/day) for two years, IGF1 level and height were remarkably improved (IGF1: 117 ng/ml, height SDs: -2.20 SDs). Further, catch-up of motor development and improvement of the proportion of extending limbs to trunk were observed (the Developmental Quotient score increased from 68 to 98 points, and the relative sitting height ratio decreased from 0.62 to 0.57). Our results suggest that endocrinological causes for short stature are variable in NS/LAH and that GH therapy should be considered as a possible treatment for delayed development in NS/LAH.
authors.affiliation: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.|Department of Pediatrics, Kawaguchi Municipal Medical Center, Kawaguchi, Japan.
authors.forename: Kei
authors.initials: K
authors.lastname: Takasawa
authors.affiliation: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Shigeru
authors.initials: S
authors.lastname: Takishima
authors.affiliation: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Chikako
authors.initials: C
authors.lastname: Morioka
authors.affiliation: Department of Pediatrics, Kawaguchi Municipal Medical Center, Kawaguchi, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Nishioka
authors.affiliation: Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.affiliation: Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Aoki
authors.affiliation: Department of Pediatrics, Kawaguchi Municipal Medical Center, Kawaguchi, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Shimohira
authors.affiliation: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Kashimada
authors.affiliation: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Morio
mesh_terms: D002675:Child, Preschool; D004334:Drug Administration Schedule; D005260:Female; D005786:Gene Expression Regulation; D006130:Growth Disorders / Q000097:blood / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D013006:Growth Hormone / Q000097:blood / Q000627:therapeutic use*; D006319:Hearing Loss, Sensorineural / Q000097:blood / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics* / Q000378:metabolism; D058247:Loose Anagen Hair Syndrome / Q000097:blood / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D009634:Noonan Syndrome / Q000097:blood / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology
chemical_list: C583557:IGF1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; C112913:SHOC2 protein, human; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone
keywords: GH therapy; GHD; GHI; NS/LAH; SHOC2