Lee Sang Soo, Han A-Leum, Ahn Moon Bae, Kim Shin Hee, Cho Won Kyoung, Cho Kyoung Soon, Park So Hyun, Jung Min Ho, Suh Byung-Kyu
Department of Pediatrics, Bucheon St. Mary's Hospital, The Catholic University of Korea College of Medicine, Bucheon, Korea.
Department of Pediatrics, Seoul St. Mary's Hospital, The Catholic University of Korea College of Medicine, Seoul, Korea.
Ann Pediatr Endocrinol Metab. 2017 Mar;22(1):55-59. doi: 10.6065/apem.2017.22.1.55. Epub 2017 Mar 31.
Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD) caused by pituitary stalk interruption syndrome (PSIS). The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient's blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD). Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD.
生长激素(GH)是正常生长的必需元素。然而,有报道称,接受颅咽管瘤脑手术的患者在没有生长激素的情况下也能正常生长。无生长激素情况下的正常生长可以用高胰岛素血症、高催乳素血症、瘦素水平升高和生长激素变体来解释;然而,其确切机制尚未阐明。我们诊断出一名13岁女性患者患有由垂体柄中断综合征(PSIS)引起的联合垂体激素缺乏症(CPHD)。该患者自出生以来经历了反复的低血糖惊厥,但在13岁时身高达到160厘米,显示生长正常。诊断后3年她又长高了8厘米,16岁时达到了168厘米的最终成人身高,高于父母平均身高。尽管她的胰岛素水平正常,但患者的血液生长激素和胰岛素样生长因子-I水平一直低于正常范围。她15岁时的体格检查显示有躯干肥胖、血脂异常和骨质疏松,这些都是生长激素缺乏症(GHD)的代谢特征。在此,我们报告一例PSIS诱发的CPHD患者,尽管严重缺乏生长激素,但最终身高仍高于父母平均身高的病例。