Contexte: Kallmann syndrome is a rare genetic disease which can affect both men and women. It combines hypogonadotropic hypogonadism which characterised by a failure to start or to fully complete puberty naturally; olfactory disorders such hyposmia or anosmia, impaired color vision, deafness, unilateral or bilateral renal aplasia and midline anomalies.
Objective: We report a case of this rare syndrome, responsible of delayed puberty view of infertility.
Patient intervention: A patient of 23 years, from a non consanguineous marriage, consultant for delayed puberty with a Tanner stage to P2G2, without cryptorchidism or hyposmia.
Intervention: We realized a hormonal exploration, with a morphological exploration of hypothalamic-pituitary region.
Main outcome measure: We have suspected this diagnosis through severe hypogonadism (absence of developpement of secondary sex characteristics). The definitive diagnosis relies on the detection of the genetic anomaly, not available to our level, hormonal explorations, olfactometry, abnormalities on MRI Kallmann syndrome.
Result: Hormonal exploration showed hypogonadotropic hypogonadism. MRI is in favor of a predominant Hypoplastic right olfactory tract and the olfactory grooves, with a normal rod.
Conclusion: Kallmann syndrome is a rare disease, responsible of severe hypogonadism, the diagnosis is based on characteristic abnormalities of the olfactory bulbs on MRI. With the correct diagnosis and treatment, fertility can be achieved in many cases and the risk of osteoporosis reduced.
20 - 23 May 2017
European Society of Endocrinology