Statural Growth in 31 Japanese Patients with SHOX Haploinsufficiency: Support for a Disadvantageous Effect of Gonadal Estrogens

Endocrine Journal

Yoko MIYOSHI⁴  Yoshikazu NISHI⁶  Maki FUKAMI⁸  Yukihiro HASEGAWA⁷  Toshiro NAGAI¹  Nobuhiko HAGA²  Tsutomu OGATA⁸  Toshiaki TANAKA³  Takashi OKABE⁵ 

[1] Department of Pediatrics, Dokkyo University School of Medicine Koshigaya Hospital;Department of Orthopedics, Shizuoka Children's Hospital;Division of Endocrinology and Metabolism, National Research Center for Child Health and Development;Department of Pediatrics, Osaka University School of Medicine;Department of Pediatrics, Toyama Municipal Hospital;Department of Pediatrics, Hiroshima Red-Cross Hospital;Division of Endocrinology and Metabolism, Tokyo Metropolitan Kiyose Children's Hospital;Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development

关键词: SHOX haploinsufficiency;    Pubertal growth;    Gonadal estrogen;    Longitudinal analysis;   

DOI  :  10.1507/endocrj.51.197

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(11)Cited-By(12)Although gonadal estrogens are known to facilitate the development of skeletal lesion in SHOX haploinsufficiency, controversy exists as to whether gonadal estrogens are disadvantageous to pubertal growth. To clarify this matter, we analyzed growth pattern in 31 Japanese patients with a normal karyotype and molecularly confirmed SHOX haploinsufficiency. The mean height SD score at the diagnosis of SHOX haploinsufficiency was similar between patients identified in childhood and those identified in adulthood (–2.7 ± 0.8 [n = 15] vs. –2.4 ± 0.7 [n = 16], P = 0.36), and was significantly lower in patients identified by the studies for short stature than in those ascertained by the familial studies of the probands both in childhood (–3.0 ± 0.6 [n = 11] vs. –1.8 ± 0.5 [n = 4], P = 0.0051) and in adulthood (–3.0 ± 0.9 [n = 5] vs. –2.2 ± 0.5 [n = 11], P = 0.040). Analysis of longitudinal paired growth data obtained in seven females showed a significantly different mean height SD score between childhood and adulthood (–2.3 ± 0.5 vs. –2.9 ± 0.8, P = 0.0060). The results imply that gonadal estrogens have a deleterious effect on pubertal growth in SHOX haploinsufficiency, and that the growth disadvantage is recognizable by longitudinal rather than cross-sectional growth studies.

【 授权许可】

Unknown