Kallmann Syndrome
Kallmann Syndrome ... Hypogonadotropic Hypogonadism and Anosmia ...
Dysplasia Olfactogenitals of de Morsier ... Anosmic Hypogonadism ...
Anosmin 1 ... Males with Kallmann syndrome show anosmia due to agenesis of the olfactory lobes, and hypogonadism secondary to deficiency of hypothalamic gonadotropin - releasing hormone ... Transmitting females have partial or complete anosmia ... cerebellar ataxia. Synkinesia, which is one of the more frequent findings, may be attributable to lack of inhibitory fibers connecting the 2 hemispheres through the corpus callosum (Nass, 1985). Colorblindness was also segregating in families described by Kallmann et al. (1944) ... Unilateral renal agenesis has been described in several patients with Kallmann syndrome ... Bardin et al. (1969) concluded that patients with Kallmann syndrome have a defect in both pituitary and Leydig cell function ... Pawlowitzki et al. (1987) ... they referred to by the acronym HHA for hypogonadotropic hypogonadism and anosmia ... Franco et al. (1991) mapped a gene, which they called KALIG - 1 (Kallmann syndrome interval gene - 1) ... Guioli et al. (1992) described a patient with Kallmann syndrome who carried an X;Y translocation resulting from abnormal pairing and recombination ...
Kallmann Syndrome 1
Clinical Synopsis ... Anosmia ... Hypogonadotropic hypogonadism ...
Olfactory lobe agenesis ... Mirror hand movements (bimanual synkinesia) ... Ataxia ... Unilateral renal agenesis Micropenis ... Cryptorchidism
... Testicular atrophy ... High - arched palate ... Gynecomastia ...
Partial or complete anosmia in some heterozygous females ... Hypothalamic gonadotropin - releasing hormone ... Impaired FSH and LH secretion ...
Leydig cell insensitivity to gonadotropin ... X - linked (Xp22.3)
Reifenstein Syndrome
Androgen Insensitivity Partial ... The features of this form of male pseudohermaphroditism are hypospadias, hypogonadism, gynecomastia, normal XY karyotpye, and a pedigree pattern consistent with X - linked recessive inheritance ... No spermatozoa are found ... histologic features ... resemble those of the XXY Klinefelter syndrome. However, the presence of germ cells, the hypospadias, and the familial nature are distinguishing features ...
Kallmann Syndrome
James Sonne; Wilfredo Lopez-Ojeda.
Kallmann Syndrome (KS) is a congenital hypogonadotropic hypogonadism hypogonadism that manifests with hypo or anosmia. This decrease in gonadal function is due to a failure in the differentiation or migration of neurons that arise embryologically in the olfactory mucosa to take up residence in the hypothalamus serving as gonadotropin-releasing hormone (GnRH) neurons.
Kallmann Syndrome - Wiki
 [for Parents]
Kallmann syndrome is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a total lack of sense of smell (anosmia) or a reduced sense of smell. If left untreated, people will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably are infertile and are at increased risk of developing osteoporosis. A range of other physical symptoms affecting the face, hands and skeletal system can also occur.
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Last Updated: 2023/08/03
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