Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature

Yoko Narumi, Tomoki Kosho, Goro Tsuruta, Masaaki Shiohara, Ei Shimazaki, Tetsuo Mori, Ayako Shimizu, Yasuhiko Igawa, Shuji Nishizawa, Kimiyo Takagi, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima

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25 Citations (Scopus)


We describe two patients with Pallister-Hall syndrome (PHS) with genital abnormalities: a female with hydrometrocolpos secondary to vaginal atresia and a male with micropenis, hypoplastic scrotum, and bilateral cryptorchidism. Nonsense mutations in GLI3 were identified in both patients. Clinical and molecular findings of 12 previously reported patients who had GLI3 mutations and genital abnormalities were reviewed. Genital features in the male patients included hypospadias, micropenis, and bifid or hypoplastic scrotum, whereas all the females had hydrometrocolpos and/or vaginal atresia. No hotspot for GLI3 mutations has been found. The urogenital and anorectal abnormalities associated with PHS might be related to dysregulation of SHH signaling caused by GLI3 mutations rather than hormonal aberrations. We recommend that clinical investigations of genital abnormalities are considered in patients with PHS, even those without hypopituitarism.

Original languageEnglish
Pages (from-to)3143-3147
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume152 A
Issue number12
Publication statusPublished - 12-2010
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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