PDF(Pubmed)
Abstract：
In this case report, we present a novel mutation in Lim-homeodomain (LIM-HD) transcription factor, LHX3, manifesting as combined pituitary hormone deficiency (CPHD). This female patient was originally diagnosed in Egypt during infancy with Diamond Blackfan Anemia (DBA) requiring several blood transfusions. Around 10 months of age, she was diagnosed and treated for central hypothyroidism. It was not until she came to the United States around two-and-a-half years of age that she was diagnosed and treated for growth hormone deficiency. Her response to growth hormone replacement on linear growth and muscle tone were impressive. She still suffers from severe global development delay likely due to delay in treatment of congenital central hypothyroidism followed by poor access to reliable thyroid medications. Her diagnosis of DBA was not confirmed after genetic testing in the United States and her hemoglobin normalized with hormone replacement therapies. We will review the patient\'s clinical course as well as a review of LHX3 mutations and the associated phenotype. Learning points: Describe an unusual presentation of undertreated pituitary hormone deficiencies in early life Combined pituitary hormone deficiency due to a novel mutation in pituitary transcription factor, LHX3 Describe the clinical phenotype of combined pituitary hormone deficiency due to LHX3 mutations.
摘要：
在这个案例报告中,我们在Lim同源结构域(LIM-HD)转录因子中提出了一种新的突变,LHX3，表现为联合垂体激素缺乏症（CPHD）。该女性患者最初在埃及婴儿期被诊断为钻石黑风扇贫血（DBA），需要多次输血。大约10个月大，她被诊断为中枢甲状腺功能减退症并接受治疗.直到她来到美国大约两年半的时候，她才被诊断为生长激素缺乏症并接受治疗。她对线性生长和肌肉张力的生长激素替代反应令人印象深刻。她仍然患有严重的全球发育延迟，可能是由于先天性中枢甲状腺功能减退症的治疗延迟，随后难以获得可靠的甲状腺药物。在美国进行基因检测后，她的DBA诊断没有得到证实，她的血红蛋白通过激素替代疗法恢复正常。我们将回顾患者的临床过程以及LHX3突变和相关表型。学习要点：描述生命早期未得到充分治疗的垂体激素缺乏的不寻常表现。LHX3描述由LHX3突变引起的联合垂体激素缺乏的临床表型。
