Hahn Jin S, Hahn Sara M, Kammann Heather, Barkovich A James, Clegg Nancy J, Delgado Mauricio R, Levey Eric
Department of Pediatrics, Stanford University, Stanford, CA, 94305-5235, USA.
J Pediatr Endocrinol Metab. 2005 Oct;18(10):935-41. doi: 10.1515/jpem.2005.18.10.935.
To investigate the incidence of endocrinopathies in holoprosencephaly (HPE) and correlate the severity of the endocrinopathies with the neuroanatomic abnormalities.
We reviewed the histories and medical records of 117 children with HPE for endocrinopathies and related treatments. Neuroimaging studies were graded for severity of HPE, hypothalamus non-separation, and pituitary abnormalities.
Diabetes insipidus (DI) occurred in 70% of patients with classic HPE. The severity of the DI correlated with the grade of HPE and hypothalamic non-separation (p < 0.0001). Anterior pituitary dysfunctions were much less common. Hypothyroidism was identified in 11% of patients, hypocorticism in 7%, and growth hormone deficiency in 5%. Only one patient with middle interhemispheric variant of holoprosencephaly (MIH) had any of these disorders.
Patients with HPE have a high incidence of DI that may be related to the failure of cleavage of hypothalamic nuclei. Anterior pituitary dysfunctions are much less common than DI.
研究全前脑畸形（HPE）患者内分泌疾病的发生率，并将内分泌疾病的严重程度与神经解剖学异常相关联。
我们回顾了117例HPE患儿的病史和医疗记录，以了解内分泌疾病及相关治疗情况。对神经影像学研究进行分级，评估HPE的严重程度、下丘脑未分离情况和垂体异常情况。
典型HPE患者中70%发生尿崩症（DI）。DI的严重程度与HPE分级和下丘脑未分离情况相关（p < 0.0001）。垂体前叶功能障碍则较为少见。11%的患者被诊断为甲状腺功能减退，7%为肾上腺皮质功能减退，5%为生长激素缺乏。仅有1例半叶全前脑畸形（MIH）患者出现上述任何一种疾病。
HPE患者DI的发生率较高，这可能与下丘脑核分裂失败有关。垂体前叶功能障碍比DI少见得多。
