A case of Kallmann syndrome

Arkoncel, Maria Luisa Cecilia R; Arkoncel, Francis Raymond P.; Lantion-Ang, Frances Lina

doi:10.1136/bcr.01.2011.3727

Cited by 12 publications

(22 citation statements)

References 8 publications

(6 reference statements)

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“…Traditionally, the lack of smell has been attributed to OB aplasia/hypoplasia and/or defects in the formation of the olfactory nerves (de Morsier, ; Truwit et al, ; Quinton et al, ; Arkoncel et al, ; Novo et al, ). This protein plays a role in other developmental processes like OB axon guidance, the formation of axon collaterals from the LOT to colonise the olfactory cortex, and migration of interneuron precursors from the forebrain subventricular zone (SVZ) to the OB (Soussi‐Yanicostas et al, ; Murcia‐Belmonte et al, ; García‐González et al, ; Esteban et al, 2013), as well as in the promotion of axonal outgrowth and branching in other population of anosmin‐1‐expressing large projection neurons: the Purkinje cells in the cerebellum (Soussi‐Yanicostas et al, ; Gianola et al, ).…”

Section: Kallmann Syndrome and Anosmin‐1: Structure And Molecular Intmentioning

confidence: 99%

Olfactory System and Demyelination

García‐González

Murcia‐Belmonte

Clemente

et al. 2013

The Anatomical Record

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Within the central nervous system, the olfactory system represents one of the most exciting scenarios since it presents relevant examples of long-life sustained neurogenesis and continuous axonal outgrowth from the olfactory epithelium with the subsequent plasticity phenomena in the olfactory bulb. The olfactory nerve is composed of nonmyelinated axons with interesting ontogenetic interpretations. However, the centripetal projections from the olfactory bulb are myelinated axons which project to more caudal areas along the lateral olfactory tract. In consequence, demyelination has not been considered as a possible cause of the olfactory symptoms in those diseases in which this sense is impaired. One prototypical example of an olfactory disease is Kallmann syndrome, in which different mutations give rise to combined anosmia and hypogonadotropic hypogonadism, together with different satellite symptoms. Anosmin-1 is the extracellular matrix glycoprotein altered in the X-linked form of this disease, which participates in cell adhesion and migration, and axonal outgrowth in the olfactory system and in other regions of the central nervous system. Recently, we have described a new patho-physiological role of this protein in the absence of spontaneous remyelination in multiple sclerosis. In the present review, we hypothesize about how both main and satellite neurological symptoms of Kallmann syndrome may be explained by alterations in the myelination. We revisit the relationship between the olfactory system and myelin highlighting that minor histological changes should not be forgotten as putative causes of olfactory malfunction. Anat Rec, 296:1424Rec, 296: -1434Rec, 296: , 2013. V C 2013 Wiley Periodicals, Inc.Key words: myelin; lateral olfactory tract; olfactory bulb; Kallmann Syndrome; anosmin-1; FGFR1; FGF2; subventricular zone; multiple sclerosisAbbreviations used: AOB 5 accessory olfactory bulb; CNS 5 central nervous system; CR 5 cysteine-rich region; ECM 5 extracellular matrix; EGFR 5 epidermal growth factor receptor; FGF 5 fibroblast growth factor; FGFR1 5 fibroblast growth factor receptor-1; FnIII 5 fibronectin-like type III; HS 5 heparan sulphates; KS 5 Kallmann syndrome; LOT 5 lateral olfactory tract; MS 5 multiple sclerosis; OB 5 olfactory bulb; OEG 5 olfactory ensheathing glia; OPC 5 oligodendrocyte precursor cell; OSN 5 olfactory sensory neurons; PNS 5 peripheral nervous system; SVZ 5 forebrain subventricular zone; WAP 5 whey acidic protein; X-KS 5 X-linked Kallmann syndrome

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Section: Kallmann Syndrome and Anosmin‐1: Structure And Molecular Intmentioning

confidence: 99%

Olfactory System and Demyelination

García‐González

Murcia‐Belmonte

Clemente

et al. 2013

The Anatomical Record

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“…Hypogonadism could happen in some different methods. The use of the term hypogonadotropic is related to hypogonadism discovered in HH which is caused by a disorder of the production of gonadotropin hormones which are released by the anterior pituitary gland, which are Luteinizing Hormone (LH) and Follicle Stimulating Hormone (FSH) [5,6].…”

Section: Uasc Life Sciences 2016mentioning

confidence: 99%

“…The underlying cause of the failure to produce LH and FSH is some disorders in the hypothalamus to release GnRH hormone which in normal condition stimulate the productions of LH and FSH. Without normal release of GnRH, pituitary gland cannot release LH and FSH, causing disorder in ovaries and testes to function normally [3,5]. Hypogonadotropic-Hypogonadism could happen in an isolated condition which can be influenced by LH and FSH only or combination of pituitary deficiency condition as in CHARGE syndrome [7].…”

Section: Uasc Life Sciences 2016mentioning

confidence: 99%

“…In women and men with delayed puberty, puberty can start naturally without therapy. However, delayed therapy in cases of Kallmann syndrome/HH will cause delayed physical growth of patients and several psychological problems [4,5].…”

Section: Diagnosismentioning

confidence: 99%

“…Kallmann syndrome and other forms of hypogonadotropic-hypogonadism (HH) can be categorized into pituitary and endocrine disorders. The results were puberty failure and development of secondary sexual characteristics, the cause of these disorders is between the locations of two endocrine glands in the brain [1,4,5].…”

Section: Pathophysiologymentioning

confidence: 99%

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