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| [PMID]: | 28306537 |
| [Au] Autor: | Chen X; Wang X; Dong G; Fu J; Wu W; Jiang Y |
| [Ad] Endereço: | Department of Endocrinology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, P.R. |
| [Ti] Título: | Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals. |
| [So] Source: | J Pediatr Endocrinol Metab;30(4):431-436, 2017 Apr 01. | | [Is] ISSN: | 2191-0251 |
| [Cp] País de publicação: | Germany |
| [La] Idioma: | eng |
| [Ab] Resumo: | BACKGROUND: The clinical significance of pericentric inversion of chromosome 9 [inv (9)] remains unclear. METHODS: This case control study assessed girls with short stature. According to karyotypes, the subjects were divided into inv (9) [46,XX,inv (9)(p12q13) and 46,XX,inv (9)(p11q13)], Turner syndrome (45, X) and control (normal 46, XX) groups, respectively. Detailed clinical features were compared. RESULTS: Height standard deviation score (SDS) values at diagnosis were -2.51±0.58, -3.71±2.12 and -2.5±1.24 for inv (9), (45, X) and control groups, respectively (p=0.022). The inv (9) group showed lower body mass index (BMI) values compared with the (45, X) and control groups (F=5.097, p=0.008). Similar growth hormone deficiency (GHD) incidences were found in all groups. Interestingly, height SDS was positively correlated with mother height and patient BMI SDS (r=0.51, p=0.036; r=0.576, p=0.023, respectively) in the inv (9) group. In the (45, X) group, height SDS was positively correlated with birth weight (r=0.392, p=0.039). CONCLUSIONS: Short stature in inv (9) girls was correlated with low birth weight (LBW) and mother height. |
| [Mh] Termos MeSH primário: |
Estatura/genética
Inversão Cromossômica/genética
Nanismo Hipofisário/patologia
Transtornos do Crescimento/patologia
Hormônio do Crescimento Humano/deficiência
Síndrome de Turner/patologia
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| [Mh] Termos MeSH secundário: |
Estudos de Casos e Controles
Criança
Análise Citogenética
Nanismo Hipofisário/genética
Feminino
Seguimentos
Transtornos do Crescimento/genética
Seres Humanos
Síndrome de Turner/genética
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| [Pt] Tipo de publicação: | COMPARATIVE STUDY; JOURNAL ARTICLE |
[Nm] Nome de substância:
| 12629-01-5 (Human Growth Hormone) |
| [Em] Mês de entrada: | 1709 |
| [Cu] Atualização por classe: | 170912 |
[Lr] Data última revisão:
| 170912 |
| [Sb] Subgrupo de revista: | IM |
| [Da] Data de entrada para processamento: | 170318 |
| [St] Status: | MEDLINE |
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