No abstract available.
Kallmann Syndrome*

Kallman syndrome is characterised by hypogonadotrophic hypogonadism and anosmia. T1 weighted MR coronal images show the bilateral absence or hypoplasia of olfactory bulbs, tracts, and sulci. We report the MR findings of Kallmann syndrome and revew the literature.
Hypogonadism ; Kallmann Syndrome* ; Olfaction Disorders ; Olfactory Bulb

Humans ; Kallmann Syndrome/genetics* ; Mutation, Missense ; Mutation

A three year old boy was admitted due to minor anomalies, such as hypertelorism, clinodactyly, ear anomaly, simian crease, renal anomalies, cryptorchism and mild mental retardation. The chro-mosome and FISH analysis showed 46,Y,der(X)t(X;Y)(p22.3;q11.2), and the same chromosomal pattern was found in the mother, who showed no phenotypic anomalies or mental retardation. According to previously reported X-Y translocation cases, the Xp22.3 was the most common breakpoint and many X-linked diseases, which are regulated by the genes located in Xp22.3, were expressed in a variable pattern, such as chondrodysplasia punctata, X-linked ichthyosis, mental retardation, Kallmann syndrome as the sole anomaly or a complex pattern. This boy did not show the typical anomalies that correspond to the above diseases. However, regular follow up and addi-tional studies with adequate counseling will be necessary due to the possibility of delayed ccurence of other typical symptoms and problems such as infertility as he grows up.
Chondrodysplasia Punctata ; Counseling ; Cryptorchidism ; Ear ; Humans ; Hypertelorism ; Ichthyosis ; Infertility ; Intellectual Disability* ; Kallmann Syndrome ; Male ; Mothers

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 hypogonadotropic 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.
Aged ; Amenorrhea ; Fathers ; Female ; Humans ; Hypogonadism ; Kallmann Syndrome* ; Male ; Olfaction Disorders ; Pedigree ; Siblings ; Wills

Kallmann syndrome is characterized by hypogonadotropic hypogonadism resulting from insufficient release of GnRH and associated with anosmia or hyposmia. We experienced two cases of Kallmann syndrome with abnormal brain MRI findings(olfactory bulb aplasia) & secondary sexual dysfunction.
Brain ; Gonadotropin-Releasing Hormone ; Hypogonadism ; Kallmann Syndrome* ; Magnetic Resonance Imaging ; Olfaction Disorders

Kallmann syndrome is characterized by hypogonadotropic hypogonadism resulting from insufficient release of GnRH and associated with anosmia or hyposmia. We experienced two cases of Kallmann syndrome with abnormal brain MRI findings(olfactory bulb aplasia) & secondary sexual dysfunction.
Brain ; Gonadotropin-Releasing Hormone ; Hypogonadism ; Kallmann Syndrome* ; Magnetic Resonance Imaging ; Olfaction Disorders

Kallmann's syndrome is characterized by hypogonadotrophic hypogonadism resulting from insufficient release of GnRH and associated with anosmia or hyposmia, which has been related to agenesis of olfactory bulbs. We experienced a case of 17 year-old Kallmann's syndrome woman and a case of successful pregnancy of 29 year-old Kallmann's syndrome woman with hMG and hCG treatment and present two cases with a review of literatures.
Adolescent ; Adult ; Female ; Gonadotropin-Releasing Hormone ; Humans ; Hypogonadism ; Kallmann Syndrome* ; Olfaction Disorders ; Olfactory Bulb ; Pregnancy*

Kallmann's syndrome is defined as the combination of hypogonadotropic hypogonadism and anosmia/hyposmia. The syndrome is a result of defect in the embryonic migratory pathway of gonadotropin-releasing hormone, which synthesizes neurons and olfactory axons. The hypogonadotropic hypogonadism results due to absence of or incomplete pubertal development and may be associated with anosmia, hyposmia, midline defect(color blindness, cleft-lip, cleft-palate, unilateral renal agenesis, sensorineural deafness), cryptorchidism and skeletal anomaly. Till date in Korea, few cases of Kallmann's syndrome have been reported but there are no available reports on cases of Kallmann's syndrome with unilateral renal aplasia and diabetes mellitus. We handled a case of Kallmann's syndrome associated with unilateral renal agenesis and diabetes mellitus. In the current work, we present a peculiar case as afore mentioned with the review of related literature.
Axons ; Blindness ; Cryptorchidism ; Diabetes Mellitus* ; Gonadotropin-Releasing Hormone ; Hypogonadism ; Kallmann Syndrome* ; Korea ; Male ; Neurons ; Olfaction Disorders

Isolated gonadotropin deficiency can be idiopathic or a part of X-linked Kallmann syndrome associated with anosmia. There have been several trials to reveal the genetic mutations that affect gonadotropin secretion, and approximately 10% of sporadic patients have mutations in either gonadotropin releasing hormone receptor (GnRHR) or KAL1 gene. Here we report one familial cases of idiopathic hypogonadotropic hypogonadism occurred in a boy and his elder sister. They presented with delayed puberty and hypoplastic gonads, but normal sense of smell. We performed GnRHR and KAL1 mutation analysis, but could not find any mutation.
Gonadotropins ; Gonads ; Humans ; Hypogonadism* ; Kallmann Syndrome ; Male* ; Olfaction Disorders ; Puberty, Delayed ; Receptors, LHRH ; Siblings* ; Smell