Kallmann syndrome and paranoid schizophrenia: a rare combination

Abstract

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.

Brain Changes in Kallmann Syndrome

“…33 KS is clinically characterized by the absence or reduction of olfaction, whereas few data are available on cognitive functioning and psychiatric risk, though schizophrenic disorders have been anecdotally reported among patients with KS. 22,23 Nonetheless, the primary and secondary olfactory cortices correspond to piriform and periamygdalar cortices and the posterior orbital-frontal gyrus and insula, all areas that in our study did not present with gray matter and cortical thickness changes. Moreover, none of our patients presented with a history of overt psychiatric disease, even though a specific neuropsychological and psychiatric assessment was not performed.…”

“…Such analyses have not been applied to KS, though they might represent useful tools for investigating the structural underpinnings of neurologic and psychiatric disorders anecdotally reported in patients with KS. 22,23 By conventional MR imaging and novel quantitative sulcation, curvature, cortical thickness, and tract-based spatial statistics (TBSS) analyses, we aimed to feature, more precisely and in a large sample of male patients, the morphologic and structural brain involvement in KS.…”

Unilaterally Disrupted Structural and Functional Connectivity of The Fronto-Iimbic System In Idiopathic Hypogonadotropic Hypogonadism

“…These ndings suggest that shared functional connectivity abnormalities across KS and nIHH patients may provide new clues to reveal the underlying pathophysiological mechanisms in these disorders. A growing number of reports have found that olfactory disorders are associated with cognitive function (24)(25)(26)(27), which has been identi ed as an extensive structural or functional abnormality in the brain.…”

Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients

“…Importantly, synkinesia and URA were significantly enriched in KS patients and several neuropsychiatric disorders were detected in both KS and nIHH patients, highlighting the importance of detailed clinical evaluation in IGD patients. Even though the genetics of psychiatric disorders is highly complicated (36, 37), the outcome of this evaluation along with the previously reported cases of KS and schizophrenia (38, 39), raise the importance of such evaluation in patients with IGD and strong family history of neuropsychiatric disorders. The reproductive and non-reproductive data are shown in Table 1.…”