• Clinical and Experimental Reproductive Medicine
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• v.26 no.2
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• pp.281-285
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• 1999

Kallmann's syndrome has both a general and specific connotation in describing general condition of gonadotropin-releasing hormone (GnRH) deficiency or a particular cluster of anomalies associated with primary eunuchoidism. The familial occurrence of hypogonadotropic hypogonadism associated with anosmia, color blindness, synkinesia, and mental defect is the classic Kallmann's syndrome. Interestingly, anosmia, or lack of smell, was not found in the absence of gonadal deficiency in the original study of this disorder. This disorder was found on both sexes, but the male to female ratio was 11:1, and Kallmann's syndrome is more often listed under disorders of male hypogonadism for this reason. Gross anatomy has shown disorders of the olfactory bulbs associated with Kallmann's syndrome and it was demonstrated a failure of GnRH-containing cells to migrate from the olfactory placode to the hypothalamus and preoptic area. We have experienced a case of Kallmann's syndrome which showed a hypoplasia of olfactory bulb in MRI during the workup of primary amenorrheic patient. So we report this case with a brief review of literatures.

• Clinical and Experimental Reproductive Medicine
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• v.26 no.3
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• pp.491-495
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• 1999

Objective: To report the pedigree of Kallmann syndrome inherited in autosomal dominant mode with variable expressivity. Material and Method: Case report. Results: The patient had amenorrhea and anosmia but did not have a sign of absolute hypo gonadotropic hypogonadism. Her father had an anosmia and her two elderly sisters also had an anosmia but delivered babies uneventfully. Her two male siblings did not show any signs of hypogonadotropic hypogonadism. Conclusion: Kallmann syndrome has many different modes of inheritance such as autosomal dominant, autosomal recessive, and X-linked form. So the careful investigation of family pedigree is required.

• Clinical and Experimental Reproductive Medicine
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• v.21 no.3
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• pp.331-333
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• 1994

A 23-year-old twin brother visited our hospital for the evaluation of anosmia and delayed secondary sexual maturation. They show eunuchoid apperance, gynecomastia, micropenis and scanty pubic hair. On hormonal study, they show findings of hypogonadotropic hypogonadism. So they were treated with HCG for 3 months and thereafter with testosterone. Herein we report a case of Kallman's syndrome in twin brother.

• Clinical and Experimental Reproductive Medicine
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• v.25 no.3
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• pp.293-297
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• 1998

Hypogonadotropic hypogonadism, or the lack of function of the testis or ovary secondary to the lack of pituitary and or hypothalamic trophic hormones, is also sometimes generally termed Kallmann's syndrome. Whether such deficiencies arise from an inborn error of hypothalamic organization and pituitary connection or damage to the hypothalamic pituitary system in prepubertal life, the manifestations of a eunuchoid or apubertal individual with potentially competent pituitary and gonadal function will result. Beyond the achievement of puberty, a similar situation can be recreated by the administration of a long-acting GnRH analog or by conditions of secondary hypothalamic dysfunction such as anorexia nervosa where shutdown of GnRH and its resultant effects cause cessation of gonadal function and even a regression of secondary sexual characteristics. Technically, these conditions are not Kallmann's syndrome but one must recognize the similarities. We have experienced a case of isolated gonadotropin deficiency which showed a negative KALIG-1 gene in infertile patient with primary amenorrhea. So we report this case with a brief review of literatures.

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.61-64
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• 2008

A 24-year-old female with primary amenorrhea was referred for a chromosome study. The karyotype of the patient was 46,X,der(X) under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with an LSI Kallmann (KAL) region probe [probes for Xp22.3(KAL) and CEP(X) for control] was carried out. The abnormal chromosome was KAL- and CEP(X)${\times}2$. In addition, interphase FISH analysis revealed the patient to be mosaic for two different cell lines: 90% of cells had three signals and 10% of the cells had only one signal for CEP(X). Based on these results, the karyotype of the patient was 45,X/46,X,psu idic(X)(p22.1), which is partial trisomy for Xqter${\rightarrow}$Xp22.1 and partial monosomy for Xpter${\rightarrow}$Xp22.1. This karyotype was considered a variant of Turner syndrome. In summary, Idic(X) and low-level mosaicism was successfully characterized by FISH analysis with a CEP(X) probe.