Syndrome of Anosmia With Hypogonadotropic Hypogonadism (Kallmann Syndrome). Clinical and Laboratory Studies in 23 Cases

Lieblich, Jeffrey M.; Rogol, Alan D.; White, Beverly J.; Rosen, Saul W.

doi:10.1016/s0022-5347(17)52719-6

Cited by 28 publications

(47 citation statements)

References 45 publications

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“…Cryptorchidism has been reported in up to 73% of males with KS [Abujbara et al, 2004]. Cryptorchidism was noted to be bilateral in 75% of cases reported by Quinton et al [2001] but in only 17% of cases reported by Lieblich et al [1982]. Microphallus and cryptorchidism are more common in patients with KAL1 mutations versus FGFR1 mutations [Salenave et al, 2008].…”

Section: Discussionmentioning

confidence: 99%

“…The renal abnormality most frequently associated with KS is unilateral renal aplasia, but other anomalies such as renal diverticulum [Lieblich et al, 1982], horseshoe kidney [Abujbara et al, 2004], malrotated kidney [Abujbara et al, 2004], multicystic dysplastic kidney [Sato et al, 2004], and vesiculoureteral reflux [Sato et al, 2004] have been reported. Interestingly, unilateral renal aplasia is more often right-sided in KS patients [Sato et al, 2004;Georgopoulos et al, 2007], while renal agenesis in individuals without KS is more likely to be left-sided [Doroshow and Abeshouse, 1961].…”

Section: Discussionmentioning

confidence: 99%

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Clues to an early diagnosis of Kallmann syndrome

Kaplan

Bernstein

Kwan

et al. 2010

American J of Med Genetics Pt A

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Kallmann syndrome (KS) is defined by the association of idiopathic hypogonadotropic hypogonadism and anosmia/hyposmia. Diagnosis is frequently delayed, however, because hypogonadotropic hypogonadism is usually not apparent until puberty and individuals with anosmia/hyposmia are often unaware of this sensory deficit. Mutations in at least six genes have been associated with KS; however, the sensitivity of molecular testing is only about 30% and, therefore, the diagnosis is largely based on clinical findings. We describe the findings in six individuals with KS, which demonstrate the utility of associated anomalies in making this diagnosis. Analysis of our case series and literature review suggests the consideration of KS for males with microphallus and/or cryptorchidism and for any patient with hearing loss, renal agenesis, and/or synkinesis. Conversely, patients with features of KS should have an audiology evaluation and a renal ultrasound.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Clues to an early diagnosis of Kallmann syndrome

Kaplan

Bernstein

Kwan

et al. 2010

American J of Med Genetics Pt A

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“…In total, 25 novel nonsense, missense, splice-site, frameshift, deletion, and translocation mutations in FGFR1 have been reported in Kallmann syndrome cases [Vermeulen et al, 2002;Dode et al, 2003;Sato et al, 2004;Albuisson et al, 2005;Kim et al, 2005;Pitteloud et al, 2005;Sato et al, 2005]. Seventeen familial and sporadic Kallmann cases have been reported with CLP or CPO, of those 9 have identified mutations in FGFR1 [Lieblich et al, 1982;White et al, 1983;Tompach and Zeitler, 1995;Molsted et al, 1997;Dode et al, 2003;Albuisson et al, 2005;Jonklaas, 2005;Kim et al, 2005;Zenaty et al, 2006]. Interestingly, these families included a mixed clefting pattern, with some family members having cleft palate only (CPO) while other family members have CLP.…”

Section: Discussionmentioning

confidence: 99%

A genome‐wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11‐23

Riley

Schultz

Cooper

et al. 2007

American J of Med Genetics Pt A

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Isolated or nonsyndromic cleft lip and palate (NS CLP) is a complex disorder resulting from multiple genetic and environmental factors. NS CLP has a birth prevalence of 1 per 500 in the Philippines where large families provide an opportunity for gene localization. Genotyping of 392 microsatellite repeat markers at 10 cM intervals over the genome was performed by the Center for Inherited Disease Research (CIDR) on 220 Filipino families with 567 affected and 1,109 unaffected family members genotyped. Among the most statistically significant results from analysis of the genome-wide scan data was a 20 cM region at 8p11-23 in which markers had LODs ≥1.0. This region on 8p11-23 has not been found in any previous genome wide scan nor does it contain any of the candidate genes widely studied in CLP. Fine mapping in 8p11-23 was done in the 220 families plus an additional 51 families, using SNP markers from 10 known genes (FGFR1, NRG1, FZD3, SLC8A1, PPP3CC, EPHX2, BNIP3L, EGR3, PPP2R2A, and NAT1) within the 20 cM region of 8p11-23. Linkage and association analyses of these SNPs yield suggestive results for markers in FGFR1 (recessive multipoint HLOD 1.07) and BAG4 (recessive multipoint HLOD 1.31).

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“…GnRH may thus be involved or responsible for the traditional reports of increased sexual activity (arousal) induced by body odors at some times of the menstrual cycle in women, and in the overall functions of pheromones in general. The elucidation of this unique origin of the GnRH neurons before they reach their ultimate hypothalamic location and function explains both the anosmia either complete or selective and the isolated gonadotropin deficiency in patients with one form or another of Kallmann's syndrome and related developmental abnormalities (Lieblich et al 1982). See also a recent report (Rugarli et al 2002) implicating a unique protein (KAL), the gene product of KAL-I, in the terminal steps of olfactory axon guidance, connections with the early GnRH neurons and possibly other peripheral axonal mappings.…”

Section: Gnrh Analogs As Superagonists or Antagonistsmentioning

confidence: 99%

Hypothalamic hormones a.k.a. hypothalamic releasing factors

Guillemin¹

2005

Journal of Endocrinology

111

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Originally searched for and eventually isolated as factors of hypothalamic origin controlling anterior pituitary secretions, these hypophysiotropic peptides are now a chapter of physiology and medical endocrinology of their own. Defying the concept of 'neuropeptides' they and their receptors are now known to be ubiquitous and to have subtle as well as profound effects on a large number of functions of both soma and psyche. This review will be composed of brief essays on current knowledge of each of the original 'hypothalamic hormones', TRH, GnRH, somatostatin, GHRH and corticotropin releasing hormone and will close on possible and probable futures.

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Syndrome of Anosmia With Hypogonadotropic Hypogonadism (Kallmann Syndrome). Clinical and Laboratory Studies in 23 Cases

Cited by 28 publications

References 45 publications

Clues to an early diagnosis of Kallmann syndrome

Clues to an early diagnosis of Kallmann syndrome

A genome‐wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11‐23

Hypothalamic hormones a.k.a. hypothalamic releasing factors

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