Less-Invasive Diagnostic Approaches for Infants with Suspected Differences of Sex Development: A Case Report of a 297-g Neonate with Ambiguous Genitalia

Takeshi Sato, Satsuki Nakano, Yosuke Ichihashi, Hisato Kobayashi, Mariko Hida, Tomohiro Ishii, Tomonobu Hasegawa

研究成果: Article査読

抄録

Less-invasive diagnostic approaches for low-birthweight preterm neonates with suspected differences of sex development have not been established. Herein, we describe our diagnostic approaches for a 297-g neonate with ambiguous genitalia. Using a fiberscope, the external genitalia were inspected in an incubator to minimize the risk of hypothermia and infection. Endotracheal aspirate, collected during routine care, was used for genetic testing to avoid anemia and vital signs fluctuations caused by peripheral blood sampling. Array comparative genomic hybridization indicated a 46,XY karyotype. No pathogenic variants of AR and SRD5A2 were found. Endocrinological data could not be evaluated owing to the absence of reference data. Identification and structural evaluation of the internal genitalia and gonads were difficult. On postnatal day 42, the parents assigned their baby's sex as male. Our less-invasive diagnostic approaches of inspection and genetic testing are useful for management, including sex assignment in extremely low-birthweight preterm neonates with ambiguous genitalia.

本文言語English
ページ(範囲)785-789
ページ数5
ジャーナルNeonatology
119
6
DOI
出版ステータスPublished - 2022 12月 1

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 発生生物学

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