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

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.