Potential benefit of rapid genetic testing for Pallister-Hall syndrome

被引：1

作者：

Maeda-Usui, Ayaka ^{[1
]}

Sato, Takeshi ^{[1
,2
]}

Nakano, Satsuki ^{[1
,2
]}

Kusakawa, Moe ^{[1
]}

Kin, Takane ^{[1
]}

Takahashi, Nobuhiro ^{[3
]}

Motojima, Yukiko ^{[4
]}

Asanuma, Hiroshi ^{[2
,5
]}

Hida, Mariko ^{[1
]}

Ishii, Tomohiro ^{[1
,2
]}

Kuroda, Tatsuo ^{[2
,3
]}

Hasegawa, Tomonobu ^{[1
,2
]}

机构：

[1] Keio Univ, Dept Pediat, Sch Med, Tokyo, Japan

[2] Keio Univ Hosp, Ctr Differences Sex Dev, Tokyo, Japan

[3] Keio Univ, Dept Pediat Surg, Sch Med, Tokyo, Japan

[4] Saitama Univ, Dept Pediat, Sch Med, Saitama, Japan

[5] Keio Univ, Dept Urol, Sch Med, Tokyo, Japan

来源：

CLINICAL PEDIATRIC ENDOCRINOLOGY | 2023年 / 32卷 / 02期

关键词：

atypical genitalia; genetic testing; management; Pallister-Hall syndrome; sex assignment;

D O I：

10.1297/cpe.32.2022-0065

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：119 / 122

页数：4

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