, Volume 13, Issue 2, pp 280–285 | Cite as

Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene

  • Carmen Entrala-Bernal
  • Cristina Montes-Castillo
  • Maria Jesus Alvarez-CuberoEmail author
  • Carmen Gutiérrez-Alcántara
  • Francisco Fernandez-Rosado
  • Esther Martinez-Espín
  • Carolina Sánchez-Malo
  • Piedad Santiago-Fernández
Case report


Kallmann Syndrome (KS) is a genetic disease of embryonic development which is characterized by the association of hypogonadotropic hypogonadism (HH) due to a deficit of the gonadotropin-releasing hormone (GnRH) and a hypo/anosmia (including a hypoplasia of the nasal sulcus and agenesis of the olfactory bulbs). Even though it is a genotypically and phenotypically heterogeneous clinical disease, there are some key genes related to KS (KAL1, FGFR1 (KAL2), GNRHR, KISSR1 (GPR54), GNRH1, NELF and PROK2). The aim of this study was to present a case report of a genetic diagnosis of KS linked to the presence of mutations in the FGFR1 (fibroblast growth factor receptor 1, also known as KAL2) gene. This diagnosis was made in a 44-year old female affected by a hypogonadism for which she had received intermittent treatment until she was 30 years old based on the patient’s own decision. The molecular analysis of FGFR1 identified the mutation c. 246_247delAG (p.T82Xfs110) in heterozygosis on exon 3 of the KAL2 gene. This is the first report of this mutation related to idiopathic hypogonadotrophic hypogonadism (IHH).

Key words

Case Genes KAL1 KAL2 Kallmann syndrome Mutation 


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Copyright information

© Hellenic Endocrine Society 2014

Authors and Affiliations

  • Carmen Entrala-Bernal
    • 1
  • Cristina Montes-Castillo
    • 2
  • Maria Jesus Alvarez-Cubero
    • 3
    Email author
  • Carmen Gutiérrez-Alcántara
    • 2
  • Francisco Fernandez-Rosado
    • 1
  • Esther Martinez-Espín
    • 1
  • Carolina Sánchez-Malo
    • 2
  • Piedad Santiago-Fernández
    • 2
  1. 1.LORGEN G.P., PTCiencias de la Salud - BICGranadaSpain
  2. 2.UGC Endocrinología y NutriciónComplejo Hospitalario de JaénJaénSpain
  3. 3.Laboratory of Genetic Identification, Department of Legal Medicine, Toxicology and Physical Anthropology, Faculty of MedicineUniversity of GranadaGranadaSpain

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