Two cases of Kallmann syndrome associated with empty sella

被引：0
|
作者：
Cristina Micheletto Dallago
Denise Dotta Abech
Julia Fernanda Semmelmann Pereira-Lima
Caroline Garcia Soares Leães
Rafael Loch Batista
Ericka Barbosa Trarbach
Miriam da Costa Oliveira
机构：
[1] Fundação Faculdade Federal de Ciências Médicas de Porto Alegre e Centro de Neuroendocrinologia,Departamento de Endocrinologia
[2] Center of Endocrinology,Unidade de Endocrinologia do Desenvolvimento e Laboratório de Hormônios e Genética Molecular LIM
[3] FFFCMPA/ISCMPA,42
[4] Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,undefined
[5] Endocrinology Unit LIM-42,undefined
[6] Clinical Hospital of São Paulo Medical University,undefined
来源：
Pituitary | 2008年 / 11卷
关键词：
Empty sella; Kallmann syndrome; mutation; Hypogonadotropic hypogonadism;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Kallmann syndrome (KS) is a developmental disease characterized by the association of isolated hypogonadotropic hypogonadism and anosmia/hyposmia. We report an unusual presentation of two females with KS and empty sella. These females, aged at 20 and 29-year-old, presented primary amenorrhea with prepubertal estradiol and low gonadotropin levels. No other significant clinical signs were observed. Empty sella was observed on MRI in both cases. Sequencing of FGFR1 gene, recently implicated in autosomal form of KS, was performed and one splicing mutation (IVS14 + 1G > A) was identified in one patient.
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页码：109 / 112
页数：3
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