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

OBJECTIVETo investigate the diagnosis and treatment of male Kallmann syndrome.

METHODSWe retrospectively analyzed the clinical data of 12 cases of male Kallmann syndrome, 3 treated for male sterility and the other 9 for secondary sex characteristics dysplasia and external genitalia developmental anomalies, all by combined replacement therapy with human chorionic gonadotropin (hCG), human menopause gonadotropin (hMG) and testosterone undecanoate for 6 months to 3 years. We compared the secondary sexual development and serum sex hormone levels of the patients before and after treatment.

RESULTSAfter 9 months of treatment, all the 12 patients showed significant improvement in the penile length, testicular volume and sex hormone levels (P < 0.01), with different degrees of promotion of the secondary sexual development. Three married cases could have normal sexual intercourse, and one of them achieved normal pregnancy.

CONCLUSIONThe clinical characteristics of Kallmann syndrome include lack of gonadotropins, lower gonad function and loss or reduction of olfactory sensation. Replacement therapy with hCG, hMG and androgens is an effective treatment method. However, no effective therapy is now available for olfactory dysfunction. Early diagnosis and hormone replacement therapy can best alleviate its clinical symptoms and eventually achieve fertility.

Adolescent ; Adult ; Hormone Replacement Therapy ; Humans ; Kallmann Syndrome ; diagnosis ; drug therapy ; Male ; Retrospective Studies ; Young Adult

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 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 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