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International Birth Defects Information Systems
Kallmann Syndrome

International Birth Defects Information Systems



Kallmann Syndrome


Topics: | Kallmann Syndrome | Anosmic Hypogonadism | Anosmin 1 | Bimanual Synkinesia | Cryptorchidism | Dysplasia Olfactogenitals of de Morsier | Gynecomastia | High - Arched Palate | Hypogonadism Hypogonadotropic | Hypogonadotropic Hypogonadism and Anosmia | Mirror hand movements (bimanual synkinesia) | Olfactory Lobe Agenesis | Reifenstein S. | Testicular Atrophy | Unilateral Renal Agenesis Micropenis |

Related Topics: | Gender | Transgender | Hermaphroditism | Intersex |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | Spanish |

Kallmann Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, July 13, 2007
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
Victor A. McKusick, OMIM, Johns Hopkins University, July 13 2007
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
Victor A. McKusick, OMIM, Johns Hopkins University, August 22, 2001
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 ...

El síndrome de Kallmann: A propósito de un caso
William Jubiz, M.D., Colombia Médica
Visitor Comments [Spanish]
El síndrome de Kallmann es un tipo de hipogonadismo hipogonadotrópico que puede afectar a hombres y mujeres; se caracteriza por hábito eunucoide, deficiente desarrollo sexual y anosmia por desarrollo defectuoso de los bulbos olfatorios. También puede ocurrir paladar hendido, sordera, convulsiones, cuarto metacarpiano corto, anomalías cardíacas y ginecomastia. La transmisión genética puede ser autosómica dominante, autosómica recesiva o ligada al cromosoma X. En esta última se presentan mutaciones o deleciones del gen KAL, localizado en Xp 22.3, el cual codifica la síntesis de anosmina-1, una proteína asociada con funciones de adherencia celular y actividad antiproteasa. Las concentraciones de la testosterona sérica así como la de la hormona folículoestimulante (FSH) y luteinizante (LH), están disminuidas pero hay respuesta a la administración de la hormona liberadora de gonadotropinas (GnRH). La infertilidad se trata con una combinación de gonadotropina coriónica (hCG) y gonadotropina menopáusica humana (hMG). La deficiencia androgénica se corrige con testosterona cuyas formas más útiles son el enantato (Testoviron®) y undecanoato (Nebido®) parenterales, los parches (Androderm®, Testoderm®) y los geles (Androgel®, Testim®). Existe un preparado de testosterona de absorción bucal (Striant SR®), el cual parece ser efectivo y conveniente. Se presenta un paciente con síndrome de Kallmann quien consultó a los 18 años por retardo del desarrollo sexual. No podía oler. Tenía testículos y pene pequeño, eunucoidismo, testosterona baja con FSH y LH bajas y una respuesta subnormal a GnRH. Respondió a la administración de testosterona con aparición de vello púbico y axilar, aumento del tamaño del pene y engrosamiento de la voz. Palabras clave: Síndrome de Kallmann; Hipogonadismo; Testosterona; Gonadotropinas.

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Last Updated: 2008/3/6

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American Medical Association