Septo-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination

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...

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Autores principales:	Aishwarya Palorath, Ishita Kharode
Formato:	article
Lenguaje:	EN
Publicado:	Hindawi Limited 2021
Materias:	Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/2369b0d9c8f046cab1a680ea184b102e
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spelling	oai:doaj.org-article:2369b0d9c8f046cab1a680ea184b102e2021-11-22T01:10:20ZSepto-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination2090-681110.1155/2021/4836030https://doaj.org/article/2369b0d9c8f046cab1a680ea184b102e2021-01-01T00:00:00Zhttp://dx.doi.org/10.1155/2021/4836030https://doaj.org/toc/2090-6811A 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.Aishwarya PalorathIshita KharodeHindawi LimitedarticlePediatricsRJ1-570ENCase Reports in Pediatrics, Vol 2021 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Pediatrics RJ1-570
spellingShingle	Pediatrics RJ1-570 Aishwarya Palorath Ishita Kharode Septo-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination
description	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.
format	article
author	Aishwarya Palorath Ishita Kharode
author_facet	Aishwarya Palorath Ishita Kharode
author_sort	Aishwarya Palorath
title	Septo-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination
title_short	Septo-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination
title_full	Septo-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination
title_fullStr	Septo-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination
title_full_unstemmed	Septo-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination
title_sort	septo-optic dysplasia diagnosed in a newborn infant with normoglycemia: the importance of thorough physical examination
publisher	Hindawi Limited
publishDate	2021
url	https://doaj.org/article/2369b0d9c8f046cab1a680ea184b102e
work_keys_str_mv	AT aishwaryapalorath septoopticdysplasiadiagnosedinanewborninfantwithnormoglycemiatheimportanceofthoroughphysicalexamination AT ishitakharode septoopticdysplasiadiagnosedinanewborninfantwithnormoglycemiatheimportanceofthoroughphysicalexamination
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Septo-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination

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