Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic function

Males, James L.

doi:10.1001/archinte.131.4.501

Cited by 33 publications

(2 citation statements)

References 28 publications

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“…Under this assumption the disease gene will be localized to either Xp11.4 or the Xq11.2, thereby excluding Kallmann's syndrome as the gene causing this disease, KAL1, maps to Xp22.3 (Legouis et al, 1991;Hardelin et al, 1992), well outside either breakpoint region. While HH is a feature of Kallmann's syndrome there are phenotypic differences between this disorder and the two brothers we report, specifically, an absence of olfactory lobe agenesis, neurological abnormalities, high-arched palate or pes cavus (Males et al, 1973;Layman, 1999).…”

Section: Resultscontrasting

confidence: 49%

Inherited pericentric inversion (X)(p11.4q11.2) associated with delayed puberty and obesity in two brothers

Talaban

Sellick

Spendlove

et al. 2005

Cytogenet Genome Res

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We report two brothers with hypogonadotropic hypogonadism (HH), obesity and short stature associated with a maternally inherited pericentric inversion (X)(p11.4q11.2). On the basis that either breakpoint might disrupt a gene whose function is critical to normal sexual development we mapped the chromosomal breakpoints using two-colour fluorescent in situ hybridisation (FISH). The position of both the Xp11.4 and Xq11.2 breakpoints was refined using a panel of ordered BAC clones. No known genes were shown to map to the breakpoint regions. While we cannot entirely exclude the possibility that association between the clinical and cytogenetic phenotypes in the family is coincidental, it is possible that the inversion is responsible for HH through alternative molecular mechanisms such as position effects.

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Section: Resultscontrasting

confidence: 49%

Inherited pericentric inversion (X)(p11.4q11.2) associated with delayed puberty and obesity in two brothers

Talaban

Sellick

Spendlove

et al. 2005

Cytogenet Genome Res

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“…High resolution coronal fast spin echo T2- and T1-weighted images are the preferred sequences for a morphologic evaluation of the olfactory system. [ 12 13 14 ] Olfactory bulbs are normally seen as well-defined structures along cribriform plate. Olfactory sulci are seen between gyrus rectus and medial orbital gyrus.…”

Section: Discussionmentioning

confidence: 99%

Kallmann syndrome: MRI findings

Zaghouani

Slim

Zina

et al. 2013

Indian J Endocr Metab

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Kallmann syndrome (KS) is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia or hyposmia. It is a neuronal migration disorder. Magnetic resonance (MR) imaging is used to visualize the olfactory tracts and to evaluate the olfactory sulci. Five patients who clinically had hypogonadotrophic hypogonadism were examined by MR. Thin coronal images of the interior frontal region were used to determine presence or absence of olfactory tract and to evaluate the olfactory sulci.

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