Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients

Pawlowitzki, I. H.; Diekstall, P; Schadel, A; Miny, Peter

doi:10.1002/ajmg.1320260226

Cited by 30 publications

(14 citation statements)

References 47 publications

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“…Kozlov, 1987and, more recently, Bouloux et al 1992). The disorder is apparently not infrequent (1 in 25 when patients were questioned about their sense of smell) and the diagnosis being made usually in the third decade of life (Pawlowitzki et al 1987). Kozlov (1987) recommend that chorionic gonadotrophin and androgens should be administered at any point in the reproductive age in cases where testicular hypoplasia is marked.…”

Section: Alterations Of Olfactory Acuity In Endocrinological and Othementioning

confidence: 99%

Olfaction in humans with special reference to odorous 16-androstenes: their occurrence, perception and possible social, psychological and sexual impact

Gower

Ruparelia²

1993

Journal of Endocrinology

161

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Section: Alterations Of Olfactory Acuity In Endocrinological and Othementioning

confidence: 99%

Olfaction in humans with special reference to odorous 16-androstenes: their occurrence, perception and possible social, psychological and sexual impact

Gower

Ruparelia²

1993

Journal of Endocrinology

161

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“…Kallmann syndrome is a clinically and genetically heterogeneous disorder, more prevalent in males (1:10,000) than in females (1:50,000) [3]. Although sporadic cases are more frequent, families with Kallmann syndrome have been reported with X-linked, autosomal dominant or recessive modes of inheritance [4][5][6].…”

Section: Introductionmentioning

confidence: 97%

Genetic insights into human isolated gonadotropin deficiency

2007

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The identification of naturally occurring genetic mutations has provided unique insight into the current knowledge of the human hypothalamic-pituitary-gonadal axis. In the past decade, several monogenic causes have been reported in patients with isolated gonadotropin deficiency. Kallmann Syndrome is a clinically and genetically heterogeneous disorder, characterized by isolated hypogonadotropic hypogonadism and anosmia or hyposmia. To date, loss-of-function mutations in the genes encoding anosmin-1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1) have been described in the X-linked and autosomal dominant forms of this syndrome, respectively. More recently, several heterozygous, homozygous or compound heterozygous mutations in the G protein-coupled prokineticin receptor-2 (PROKR2) and one of its ligands, prokineticin-2 (PROK2) were described in Kallmann syndrome. In addition, complex genetic transmission (digenic inheritance) was recently demonstrated in this condition. Regarding isolated hypogonadotropic hypogonadism without olfactory abnormalities, loss-of-function mutations in the Gonadotropin-releasing hormone (GnRH) receptor (GnRH-R) or the G-protein coupled receptor 54 (GPR54) genes, both encoding transmembrane receptors, have been described, as well as FGFR1 mutations. Finally, mutations of the beta sub-units of LH and FSH have been described in patients with selective gonadotropin deficiency. We review the role of these distinct genetic factors in human isolated hypogonadotropic hypogonadism.

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“…Kallmann Syndrome (KS) is a rare disorder affecting about 1 in 10.000 men and 1 in 50.000 women 8,12 .…”

Section: Introductionmentioning

confidence: 99%

Unusual Association of Kallmann Syndrome with Empty Sella and Arachnoid Cyst

Scuotto

Accardo²,

Rotondo

et al. 2002

Rivista di Neuroradiologia

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We report the MR findings of a patient with clinical and laboratory evidence of Kallmann Syndrome (KS), a genetic disorder of gonadal and olfactory development, in which unexpected associated anomalies were found.The patient was clinically suffering from hypogonadotropic hypogonadism and left-side hyposmia. MR examination included thin coronal sections of the frontal region to determine presence or absence of olfactory bulb-tract and to evaluate the olfactory sulci.On the left side, the posterior portion of the olfactory sulcus appeared hypoplastic, the bulb was unidentifiable and a dysplastic tangle was seen. Besides these abnormalities of the olfactory system, the presence of empty sella and an arachnoid cyst in the left middle fossa was disclosed.Although not a constant finding, other anomalies have sometimes been reported with KS. The association with empty sella and arachnoid temporal cyst found in the present case, was previously described only once in literature, but in our instance hypogonadism had appeared in an adult patient. Its probable mechanism is discussed.Rara associazione della sindrome di Kallmann con sella vuota e cisti aracnoidea RIASSUNTO -È descritto il caso di un giovane paziente, affetto da ipogonadismo ipogonadotropo e da iposmia monolaterale a sinistra. Il profilo clinico-anamnestico ed i dati di laboratorio hanno suggerito la presenza di una Sindrome di Kallmann (SK), raro disordine di sviluppo gonado-olfattorio su base genetica. La diagnosi presuntiva, definitivamente confermata dall'analisi genetica, è stata suffragata dalla Risonanza Magnetica, che ha rilevato anomalie del sistema olfattorio, evidenziando contestualmente anche la presenza di sella vuota e di cisti aracnoidea in fossa cranica media a sinistra, reperti del tutto inaspettati. Essi, infatti, non rientrano tra quelli che comunemente, pur se non costantemente, sono riportati accompagnarsi alla SK. Per quello che è a nostra conoscenza, l'associazione che abbiamo riscontrato è stata in precedenza descritta solo una volta in letteratura ma con un elemento differenziale, anche questo piuttosto inconsueto: la manifestazione nel caso in discussione dell'ipogonadismo in età adulta.

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Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients

Cited by 30 publications

References 47 publications

Olfaction in humans with special reference to odorous 16-androstenes: their occurrence, perception and possible social, psychological and sexual impact

Olfaction in humans with special reference to odorous 16-androstenes: their occurrence, perception and possible social, psychological and sexual impact

Genetic insights into human isolated gonadotropin deficiency

Unusual Association of Kallmann Syndrome with Empty Sella and Arachnoid Cyst

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