Rare Diseases Symptoms Automatic Extraction

Kallmann syndrome and paranoid schizophrenia: a rare combination.

[kallmann syndrome]

Kallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies. In about one-third of the patients, mutations have been identified in at least seven different genes. Virtually no data are available about possible neuropsychiatric symptoms in KS. Here, a young adult male is described with a previous clinical diagnosis of KS and recent paranoid schizophrenia of which positive, but not negative symptoms, fully remitted upon treatment with antipsychotics. Neither genome-wide array analysis nor mutation analyses disclosed imbalances or mutations in any of presently known KS disease genes. This is the first report on a patient with KS and paranoid schizophrenia in whom extensive genetic analyses were performed. It is concluded that further studies are warranted in order to elucidate a possible increased risk for psychiatric symptoms in patients with KS.

Diseases presenting "hypogonadism" symptom

  • adrenomyeloneuropathy
  • aniridia
  • aromatase deficiency
  • erdheim-chester disease
  • familial hypocalciuric hypercalcemia
  • kallmann syndrome
  • lamellar ichthyosis
  • x-linked adrenoleukodystrophy

This symptom has already been validated