Two cases of Kallmann syndrome associated with empty sella

被引：12

作者：

Dallago, Cristina Micheletto ^{[4
,5
,6
]}

Abech, Denise Dotta ^{[4
,5
,6
]}

Pereira-Lima, Julia Fernanda Semmelmann ^{[4
,5
,6
]}

Leaes, Caroline Garcia Soares ^{[4
,5
,6
]}

Batista, Rafael Loch ^{[4
,5
,6
]}

Trarbach, Ericka Barbosa ^{[1
,2
,3
]}

Oliveira, Miriam Da Costa ^{[4
,5
,6
]}

机构：

[1] Sao Paulo Med Univ, Clin Hosp, Endocrinol Unit LIM 42, Sao Paulo, Brazil

[2] Univ Sao Paulo, Fac Med, Hosp Clin, Unidad Endocrinol Desenvolvimento, Sao Paulo, Brazil

[3] Univ Sao Paulo, Lab Hormon Genet Mol, LIM 42, Sao Paulo, Brazil

[4] FFCMPA ISCMPA, Ctr Endocrinol, Porto Alegre, RS, Brazil

[5] Complex Hosp Santa Casa Porto Alegre, Dept Endocrinol, Fundacao Fac Fed, Porto Alegre, RS, Brazil

[6] Complex Hosp Santa Casa Porto Alegre, Ctr Neuroendocrinol, Porto Alegre, RS, Brazil

来源：

PITUITARY | 2008年 / 11卷 / 01期

关键词：

empty sella; Kallmann syndrome; FGFR1; mutation; hypogonadotropic hypogonadism;

D O I：

10.1007/s11102-007-0043-9

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

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.

引用

页码：109 / 112

页数：4

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