ESPE Abstracts (2014) 82 P-D-2-2-546

aDepartment of Paediatric Endocrinology, Centro Hospitalar do Porto, Oporto, Portugal; bDepartment of Paediatric, Centro Hospitalar do Médio Ave, Famalicão, Portugal; cCICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

Background: Kallmann syndrome (KS) is a rare clinical entity, characterized by the association of hipogonadotropic hypogonadism and hypo/anosmia, with an estimated prevalence of 1:8000 in males and 1:40 000 in females.

Method: Retrospective study of cases of KS diagnosed in paediatric age. Genetic analysis was performed by PCR and DNA sequencing of KAL1, FGFR1, GNRHR, GNRH1, PROK2, PROKR2, KISS1R, TAC3, TACR3, and FGF8 genes.

Results: Total of seven cases, 6 (85%) males. Median age at diagnosis was 16.15 years. All were referred to a tertiary Paediatric Endocrinology Outpatient Hospital due to pubertal delay, except case 6 (diagnosis made by genetic study after his brother’s diagnosis). Results are summarized in Table 1. All patients, except case 6, are treated with sex hormones.

Table 1.
Decimal age at diagnosis16.1517.915.7716.5217.0910.8313.6
PresentationPrimary amenorrhoeaPubertal delayPubertal delayPubertal delayPubertal delayScreeningPubertal delay short stature
Family historyConstitutional delay of pubertyNoneNoneNoneNoneBrother: KSNone
Basal LH and FSH LowLowLowLowLowLow
MRI olfactive bulbsAbsentAbsentHypoplasiaAbsentAbsentAbsent
Genetic analysisWithout mutationKAL1 – deletion of exon 1, c.67_92del26, p.Leu23fsX54FGFR1 missense mutation (p.S96C)Without mutationKAL1 – whole gene deletionKAL1 – whole gene deletionFGFR1 frameshift mutation (p.V460SfsX3)
Other malformationsBilateral deafnessBilateral cryptorchidism, renal agenesisBilateral cryptorchidism, right deafnessCleft lipRenal agenesisBilateral cryptorchidismNone

Conclusion: The diagnosis of KS is mainly done during adolescence or adulthood because of incomplete or absent pubertal development. The sensitivity of molecular testing is only about 30%, however we identified mutations in 71% of our patients. Despite the availability of genetic testing the diagnosis is still mainly based on clinical findings. So the authors emphasize that it is essential take into account the associated malformations that may coexist in KS as well as assessment of the olfaction, often undervalued by patients.

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