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生长激素治疗一名视隔发育不良儿童期间青春期的加速。

Acceleration of puberty during growth hormone therapy in a child with septo-optic dysplasia.

作者信息

Catlı Gönül, Altıncık Ayça, Anık Ahmet, Demir Korcan, Güleryüz Handan, Abacı Ayhan, Böber Ece

机构信息

Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey. E-mail:

出版信息

J Clin Res Pediatr Endocrinol. 2014;6(2):116-8. doi: 10.4274/Jcrpe.1187.

Abstract

Septo-optic dysplasia (SOD) is a heterogeneous disorder of the central nervous system characterized by various endocrinological and neurological findings. It is a complex disease caused by a combination of genetic and environmental factors. Herein, we report the case of a 5.5-year-old girl who presented with short stature and strabismus. Ophthalmological examination revealed bilateral optic nerve hypoplasia. Ectopic posterior pituitary and bilateral optic hypoplasia were detected on brain magnetic resonance imaging. The presence of bilateral optic nerve hypoplasia and hypopituitarism led to the diagnosis of SOD. An abated growth hormone (GH) response was found in the GH stimulation test and GH replacement therapy was initiated. At the end of the first year of clinical follow-up, secondary hypothyroidism was detected and L-thyroxine was added to the treatment. At the age of 8.25 years, thelarche was noted and 6 months later, the patient presented with menarche. At this time, the bone age was 12 years and the basal luteinizing hormone level was 7 mIU/mL. These findings indicated acceleration in the process of pubertal development. We report this case (i) to emphasize the need to investigate hypopituitarism in cases with bilateral optic nerve hypoplasia and (ii) to draw attention to the fact that during the follow-up of SOD cases receiving GH therapy, inappropriate acceleration of growth velocity and rapid improvement in bone age may be predictive of central precocious puberty development.

摘要

视隔发育不良(SOD)是一种中枢神经系统的异质性疾病,其特征为各种内分泌和神经学表现。它是一种由遗传和环境因素共同作用引起的复杂疾病。在此,我们报告一例5.5岁女童,她表现为身材矮小和斜视。眼科检查发现双侧视神经发育不全。脑部磁共振成像检测到垂体后叶异位和双侧视神经发育不全。双侧视神经发育不全和垂体功能减退的存在导致了视隔发育不良的诊断。生长激素(GH)刺激试验中发现生长激素反应减弱,遂开始生长激素替代治疗。在临床随访的第一年结束时,检测到继发性甲状腺功能减退,并在治疗中添加了左甲状腺素。在8.25岁时,发现乳房发育,6个月后患者出现月经初潮。此时,骨龄为12岁,基础促黄体生成素水平为7 mIU/mL。这些发现表明青春期发育进程加速。我们报告该病例:(i)以强调在双侧视神经发育不全的病例中调查垂体功能减退的必要性;(ii)提请注意在接受生长激素治疗的视隔发育不良病例的随访过程中,生长速度的不适当加速和骨龄的快速改善可能预示着中枢性性早熟的发展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/720e/4141573/cd11e87e2ebc/JCRPE-6-116-g1.jpg

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