Kallmann syndrome is named after Franz Joseph Kallmann, a German-born psychiatrist who described in 1944 twelve subjects from three families who presented with a syndrome of missed puberty, anosmia, and color blindness. Yet, several other eponyms for the same syndrome can be found in the literature. Despite the fact that Kallmann syndrome is the most recognized eponym, very little is known abou...

OBJECTIVE To describe a novel KAL1 mutation in patients affected by Kallmann syndrome. SETTING Endocrinology Clinic of the João de Barros Barreto University Hospital - Federal University of Pará, Brazil. METHODS Clinical examination, hormone assays and sequencing of exons 5, 6 and 9 of the KAL1 gene in four Brazilian brothers with Kallmann syndrome. RESULTS Detected a novel KAL1 mutation,...

PURPOSE: To describe the MR appearance of the olfactory bulbs and tracts and temporal lobes in patients with Kallmann syndrome, a disorder characterized by hypogonadotropic hypogonadism and anosmia. IvIETHODS: High-resolution MR scans with a surface coil placed over the nasion were performed in two patients with Kallmann syndrome. Coronal 3-mm thick contiguous sections were obtained through the...

PURPOSE To describe the MR appearance of the olfactory bulbs and tracts and temporal lobes in patients with Kallmann syndrome, a disorder characterized by hypogonadotropic hypogonadism and anosmia. METHODS High-resolution MR scans with a surface coil placed over the nasion were performed in two patients with Kallmann syndrome. Coronal 3-mm thick contiguous sections were obtained through the o...

background: kallmann syndrome (kal s) is an isolated form of hypogonadotrophic hypogonadism in combination with a defect in smell sensation. depending on the genetic form of the disease, a number of non-reproductive, non-olfactory abnormalities may also be existent. in the present report, we describe a male with kal s associated with hearing loss, and the successful treatment of his sexual and ...

Kallmann syndrome is an inherited deficiency of gonadotropin-releasing hormone (GnRH) that is characterized by hypogonadism with delayed or absent puberty and dysfunctional olfaction. While Kallmann syndrome-associated mutations have been identified in some sets of patients, for many of these individuals, the underlying cause remains unknown. In this issue of the JCI, Cariboni and colleagues id...

BACKGROUND AND PURPOSE Kallmann syndrome is a rare inherited disorder due to defective intrauterine migration of olfactory axons and gonadotropin-releasing hormone neurons, leading to rhinencephalon hypoplasia and hypogonadotropic hypogonadism. Concomitant brain developmental abnormalities have been described. Our aim was to investigate Kallmann syndrome-related brain changes with conventional ...

Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropinreleasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes...