Potential benefit of rapid genetic testing for Pallister–Hall syndrome

Ayaka Maeda-Usui, Takeshi Sato, Satsuki Nakano, Moe Kusakawa, Takane Kin, Nobuhiro Takahashi, Yukiko Motojima, Hiroshi Asanuma, Mariko Hida, Tomohiro Ishii, Tatsuo Kuroda, Tomonobu Hasegawa

研究成果: Article査読


Pallister–Hall syndrome (PHS) is defined as a group of characteristic manifestations caused by a monoallelic GLI3 pathogenic variant. A two-month-old infant was referred to our institution because of undetermined sex. The infant had atypical genitalia with postaxial polysyndactyly, a hypothalamic mass, and an imperforate anus. We identified a known pathogenic variant of the GLI3 gene within one week and diagnosed the infant with PHS. The parents assigned the infant as male, considering the 46,XY karyotype, normal testosterone secretion, possible male identity, and the natural history of PHS. In infants with atypical genitalia and other malformations, such as polydactyly, a hypothalamic mass, or an imperforate anus, rapid GLI3 testing may provide information for planning lifelong management, including sex assignment.

ジャーナルclinical pediatric endocrinology
出版ステータスPublished - 2023

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 内分泌学、糖尿病および代謝内科学
  • 内分泌学


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