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Two cases of Kallmann syndrome associated with empty sella
Cristina Micheletto Dallago1, Denise Dotta Abech, Julia Fernanda Semmelmann Pereira-Lima
1Departamento de Endocrinologia, Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, Brazil.
Pituitary
|May 29, 2007
Summary
Kallmann syndrome (KS) is a rare genetic disorder. This study highlights two female patients with KS presenting with an empty sella, a unique finding, and identifies a novel FGFR1 gene mutation.
Area of Science:
- Genetics
- Endocrinology
- Neuroscience
Background:
- Kallmann syndrome (KS) is a congenital disorder characterized by hypogonadotropic hypogonadism and impaired sense of smell.
- It is a genetically heterogeneous condition, with mutations in several genes identified as causes.
Observation:
- This report details two female patients diagnosed with KS.
- Both patients presented with primary amenorrhea, low gonadotropin levels, and prepubertal estradiol levels.
- Magnetic Resonance Imaging (MRI) revealed an empty sella in both individuals, an uncommon association with KS.
Findings:
- Genetic analysis of the FGFR1 gene, known to be implicated in autosomal KS, was conducted.
- A novel splicing mutation (IVS14 + 1G > A) in the FGFR1 gene was identified in one of the patients.
Implications:
- This case series expands the clinical spectrum of Kallmann syndrome, particularly in females.
- The identification of an empty sella in conjunction with KS suggests a potential link between specific genetic mutations and pituitary structure.
- Further research into the role of FGFR1 mutations in KS and associated pituitary abnormalities is warranted.
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