A rare case of Kallmann syndrome in a female with pulmonary valve stenosis: Coincidence or genetic link?

INTRODUCTION

Kallmann De Morsier syndrome (KS) is a rare genetic disorder characterized by congenital gonadotropic deficiency alongside anosmia or hyposmia, with a lower prevalence in females. Diagnosis relies on clinical and biological assessment, confirmed through pituitary magnetic resonance imaging (MRI). Cardiac involvement in this syndrome is uncommon, with only a few cases documented in the literature.

OBSERVATION: We reported the case of a 22-year-old female with a history of pulmonary valve stenosis for which she underwent balloon dilatation at the age of five years. She presented with primary amenorrhoea and a history of anosmia was noted. Hormonal investigations revealed hypogonadotropic hypogonadism and a hypothalamic-pituitary MRI identified complete agenesis of the olfactory bulbs. A diagnosis of KS was made. Genetic testing for the KAL1 gene was negative. The patient was put on hormone replacement therapy in order to achieve her puberty and promote general well-being

Conclusion

This case represents the first reported association between KS and pulmonary valve stenosis, highlighting the need for further molecular biological research to explore other genes that may explain this connection.