Endocrine Abstracts

Introduction: Kallmann syndrome (KS) is a rare disorder. It is now designated as olfactogenital dysplasia with an association between agenesis of the olfactory bulbs and hypogonadism. The association of KS with a pituitary microadenoma has not been well described in the literature.

Case report: It’s a 16-year-old and 6 months, admitted for evaluation of a micropenis, he has as ATCDs an orchidopexy performed at the age of 3 years, infertility in the maternal uncle. During the interrogation a growth retardation was noticed from childhood, anosmia since the age of 7 years. The clinical examination revealed a a eunuchoid body proportion Body mass index (BMI) of 24.52 kg/m², gynecomastia without galactorrhea. Tanner scale: G1P2. He had micropenis (stretched phallus length 3.5 cm). Hormonal assays identified a hypogonadotropic hypogonadism profile with total testosterone 0,58 ng/ml, luteinizing hormone 0.1 IU/ml and follicle-stimulating hormone 1 IU/ml. prolactin (PRL) and the cortisol blood test are within normal limits. She had normal Thyroid function Karyotyping showed 46XY pattern. MRI of the brain showed hypoplasia of the olfactory bulb, especially on the left. MRI also revealed a 4 mm pituitary microadenoma. Androgen replacement is planned for patient

Discussion: We report a case of a rare association of KS with a non-functional pituitary microadenoma. KS is an isolated form of hypogonadotropic hypogonadism in combination with a defect in sense of smell. It is due to defects in olfactory structures (bulbs, grooves, tracts) and altered migration of GnRH-secreting neurons into the preoptic and hypothalamic regions. The patient’s clinical presentation seems to be concordant in the literature, with the classical association of hypogonadotropic hypogonadism and anosmia. MRI is highly valuable in evaluating suspected KS. Data suggest that, in hypogonadotropic hypogonadism, MRI being a non-irradiating technique, should be the first radiological step for investigating the pituitary gland as well as abnormalities of the ethmoid, olfactory bulb and tracts. The central finding in the present case is the MRI finding of a non-functioning pituitary microadenoma in association with KS. This association has been previously reported by Bolu et al. in their MRI assessment of 120 male patients with idiopathic hypogonadotropic hypogonadism.

Conclusion: Olfactory MRI imaging may aid in the diagnosis of KS in patients with suggestive clinical findings. Pituitary adenoma is a rare association with the KS. This emphasizes the need to image the pituitary region in KS patients to assess for hypoplastic pituitary malformations or adenomas incidentaloma.