Kallmann Syndrome with Panhypopituitarism and Uterine Agenesis

Abstract

We report the case of a female patient of 27 years with no particular family history and who consulted for primary amenorrhea. The clinical examination revealed a female morphotype with eunuchoid appearance. The patient was immature and had anosmia. Laboratory tests: FSH- 0.67mIU/L, LH-0.05mIU/L, Estradiol- 17pg/ml (gonadotropin deficiency), basic cortisol-264.72nmol /L, ACTH-6pg/ml (adrenocorticotropic deficiency), FT4-6.20 pmol/L, TSHus-3.11?IU/L (thyreotropic deficiency), PRL = 4.02ng/ml. The Karyotype was 46XX. The hypothalamic pituitary MRI revealed an agenesis of the olfactory bulbs (Fig.1). An abdominal ultrasound performed to search an associated renal malformation and completed with a pelvic MRI found a uterine agenesis (Fig.2), atrophic ovaries (right ovary-1cm³ and left ovary-2cm³, fig.3 and fig 4 respectively) and a malrotation of a small right kidney (fig.5). Our treatment consisted in a hormonal replacement therapy.