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
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...
2023: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology