Growth hormone deficiency in a case of septo-optic-dysplasia due to SOX2 mutation: should we re-test patients during the transition period?

被引：3

作者：

Gasco, Valentina ^{[1
]}

Matarazzo, Patrizia ^{[2
]}

De Sanctis, Luisa ^{[2
]}

Ghigo, Ezio ^{[1
]}

机构：

[1] Univ Turin, Dept Med Sci, Div Endocrinol Diabet & Metab, Turin, Piedmont, Italy

[2] Univ Turin, Dept Publ Hlth & Pediat, Turin, Piedmont, Italy

来源：

BMJ CASE REPORTS | 2022年 / 15卷 / 12期

关键词：

Pituitary disorders; Congenital disorders; HYPOGONADOTROPIC HYPOGONADISM; ENDOCRINE-SOCIETY; GH DEFICIENCY; PITUITARY; ADULTS; ANOPHTHALMIA; ASSOCIATION; HYPOPLASIA; GUIDELINES; BRAIN;

D O I：

10.1136/bcr-2022-251897

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Gene mutations encoding transcription factors, including SOX2, have been associated with growth hormone deficiency (GHD) and abnormal pituitary development. Guidelines on GHD management in the transition period state that patients with genetic-based childhood-onset GHD can skip retesting due to a high likelihood of permanent GHD. We describe a case of septo-optic-dysplasia due to SOX2 mutation characterised by childhood-onset GHD, which showed a normal somatotropic function at the transition period. This case raises the opportunity to retest for GHD during the transition period, even in patients with a known genetic cause, in order to avoid inappropriate GH treatment.

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页数：4

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