Scommegna Salvatore, Galeazzi Daniela, Picone Simonetta, Farinelli Edoardo, Agostino Rocco, Bozzao Alessandro, Boscherini Brunetto, Cianfarani Stefano
Department of Paediatrics, San Camillo Hospital, Rome, Italy.
Horm Res. 2004;62(1):10-6. doi: 10.1159/000077661. Epub 2004 Apr 1.
Neonatal onset hypopituitarism is a life-threatening, potentially treatable endocrine disease. A possible cause is congenital absence of the anterior pituitary gland, a condition very rarely reported in the literature.
A series of 5 cases of children with pituitary aplasia referred to the Centre of Paediatric Endocrinology 'Rina Balducci', Tor Vergata University, Rome, is presented.
Major clinical features in our patients were respiratory distress on the first day of life, in spite of uneventful pregnancy, labour and delivery, metabolic acidosis, non-cholestatic jaundice, hypotonia, severe hypoglycaemia, hypogenitalism, and midline defects. Diagnosis was established by endocrine tests during hypoglycaemia and hypothalamic-pituitary MRI scan. Symptoms disappeared soon after replacement therapy was started.
We stress the importance of performing baseline endocrine tests as soon as possible during hypoglycaemia and MRI of the brain aimed at visualizing the hypothalamic-pituitary area in neonates with hypogenitalism and severe unexplained hypoglycaemia, so that the irreversible neurological and developmental consequences of panhypopituitarism can be prevented by adequate replacement therapy.
新生儿期发病的垂体功能减退症是一种危及生命、但有可能治愈的内分泌疾病。一个可能的病因是先天性垂体前叶缺如，这种情况在文献中报道极少。
本文介绍了转诊至罗马第二大学“里娜·巴尔杜奇”儿科内分泌中心的5例垂体发育不全患儿的情况。
我们的患者主要临床特征为出生第一天即出现呼吸窘迫，尽管孕期、分娩过程顺利，还伴有代谢性酸中毒、非胆汁淤积性黄疸、肌张力低下、严重低血糖、生殖器发育不全及中线缺陷。通过低血糖期间的内分泌检查及下丘脑 - 垂体磁共振成像扫描确诊。开始替代治疗后症状很快消失。
我们强调，对于患有生殖器发育不全和严重不明原因低血糖的新生儿，在低血糖期间应尽快进行基础内分泌检查，并进行脑部磁共振成像以观察下丘脑 - 垂体区域，以便通过适当的替代治疗预防全垂体功能减退症导致的不可逆神经和发育后果。
