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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)785-789
Number of pages5
JournalNeonatology
Volume119
Issue number6
DOIs
Publication statusPublished - 2022 Dec 1

Keywords

  • Ambiguous genitalia
  • Extremely low-birthweight infants
  • Less invasive
  • Sex assignment

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Biology

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