Palorath Aishwarya, Kharode Ishita
Department of Pediatric Gastroenterology, University of Miami-Jackson Health System, 1601 NW 12th Ave, Miami, FL 33137, USA.
Department of Pediatrics, Division of Pediatric Endocrinology, Richmond University Medical Center, 355 Bard Ave, Staten Island, New York, NY 10310, USA.
Case Rep Pediatr. 2021 Nov 13;2021:4836030. doi: 10.1155/2021/4836030. eCollection 2021.
A newborn male infant was admitted to the neonatal intensive care unit due to suspected sepsis. He was clinically stable with normal electrolyte levels on admission. However, he was noted to have micropenis and bilateral nonpalpable testes. Ultrasound imaging confirmed the presence of both gonads in the inguinal canal, with no Müllerian structures visualized. Laboratory examination revealed an undetectable random plasma cortisol level; subsequent ACTH stimulation testing confirmed adrenal insufficiency. Further testing revealed additional pituitary hormone deficiencies, and the infant was started on multiple hormone replacement therapies. Magnetic resonance imaging identified absent septum pellucidum, pointing of the frontal horns, and optic nerve hypoplasia. A diagnosis of septo-optic dysplasia was made based on this combination of findings. This case highlights the importance of thorough physical examination in newborn infants, which may reveal the only sign of underlying pathology in the absence of other concerning findings.
一名男婴因疑似败血症被收治入新生儿重症监护病房。入院时他临床状况稳定，电解质水平正常。然而，发现他有小阴茎和双侧睾丸未触及。超声成像证实双侧性腺位于腹股沟管内，未见苗勒管结构。实验室检查显示随机血浆皮质醇水平检测不到；随后的促肾上腺皮质激素刺激试验证实存在肾上腺功能不全。进一步检查发现还有其他垂体激素缺乏，该婴儿开始接受多种激素替代治疗。磁共振成像显示透明隔缺如、额叶角指向异常和视神经发育不全。基于这些综合发现，诊断为视隔发育不良。该病例强调了对新生儿进行全面体格检查的重要性，在没有其他相关发现的情况下，全面体格检查可能会揭示潜在病理状况的唯一迹象。
