• Clinical and Experimental Reproductive Medicine
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• v.19 no.1
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• pp.81-85
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• 1992

The effects of pulsatile GnRH therapy have been studied for the treatment of different forms of hypogonadotropic hypogonadism, including idiopathic hypogonadotropic hypogonadism and hypogonadism developed as a result of treatment with combination of surgery and irradiation for pituitary or hypothalamic tumor. GnRH was administered subcutaneously in a dose of $10{\mu}g$ every 2 hours with the pulsatile infusion pump. With GnRH therapy, all patients improved secretion of LH, FSH and testosterone. Testicular volumes increased. Spermatogenesis was induced in 8 patients. Pulsatile GnRH therapy is an effective treatment for idiopathic hypogonadotropic hypogonadism and can have a role in hypogonadism previously treated with combination of surgery and irradiation for pituitary or hypothalamic tumor.

• Clinical and Experimental Reproductive Medicine
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• v.36 no.3
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• pp.219-224
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• 2009

Objective: Hypogonadotropic hypogonadism (HH) is an uncommon cause of male infertility. We investigated the outcome of gonadotropin therapy for restoring fertility and pregnancy outcomes in patients with HH. Methods: Medical charts of 10 infertile male patients with HH treated with gonadotropin were reviewed. Initial testicular volume were estimated. Semen analysis parameters (semen volume, sperm counts, motility), serum leutenizing hormone (LH), follicle stimulating hormone (FSH), total testosterone were determined before and after human chorionic gonadotropin/human menopausal gonadotropin (hCG/hMG) treatment. Differences were analyzed statistically. Results: Of 10 patients, 7 (70%) succeed at pregnancy (nature pregnancy in 4). Semen analysis parameters, serum FSH, and testosterone were increased significantly after treatment. The population was stratified according to initial testicular volume into a small testis subset (testicular volume less than 10 cc in 4) and a large testis subset (testicular volume 10 cc or greater in 6). Semen analysis parameters and serum testosterone were increased significantly after treatment in large testis subset. Conclusion: Infertile men with HH initiate and maintain spermatogenesis with gonadotropin (hCG/hMG alone or combined) therapy, thus gonadotropin therapy is good choice in infertile men with HH.

• Development and Reproduction
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• v.9 no.1
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• pp.1-5
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• 2005

The hypothalamo-pituitary-gonadal hormone axis is centrally controlled by a complex regulatory network of excitatory and inhibitory signals, that is dormant during infantile and juvenile periods and activated at puberty. The kisspeptins are the peptide products of the KiSS-1 gene and the endogenous agonists for the G protein-coupled receptor 54(GPR54). Although KiSS-1 was initially discovered as a metastasis suppressor gene, a recent evidence suggests the KiSS-1/GPR54 system is a key regulator of the reproductive system. Yet the actual role of the KiSS-1/GPR54 system in the neuroendocrine control of gonadotropin secretion remains largely unexplored, the system could be the first missing link in the reproductive hormonal axis. Central or peripheral administration of kisspeptin stimulates the hypothalamic-pituitary-gonadal axis, increasing circulating gonadotropin levels in rodents, sheep, monkey and human models. These effects appear likely to be mediated via the hypothalamic GnRH neuron system, although kisspeptins may have direct effects on the anterior pituitary gland. The loss of function mutations of the GPR54(GPR54-/-) have been associated with lack of puberty onset and idiopathic hypogonadotropic hypogonadism(IHH). So kisspeptin infusion may provide a novel mechanism for HPG axis manipulation in disorders of the reproductive system.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.2
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• pp.46-52
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• 2022

Inborn errors of metabolism (IEM) are very rare and genetically transmitted diseases and have man y different symptoms related with multisystemic involvement. More rarely, endocrinopathies can be an early and first symptom of IEM, but presents with signs of later complications in adolescent or adulthood. The mechanisms of endocrine dysfunction in IEM are poorly understood. Hypogonadotropic hypogonadism is common in hemochromatosis, adrenoleukodystrophy, galactosemia, and glycogen storage disease. Many girls with classic galactosemia are at high risk for premature ovarian insufficiency (POI), despite an early diagnosis and good control. Mitochondrial diseases are multisystem disorders and are characterized by hypo- and hypergonadotrophic hypogonadism, thyroid dysfunction and insulin dysregulation. Glycogen storage disorders (GSDs), especially type Ia, Ib, III, V are assocciated with frequent hypoglycemic events. IEM is a growing field and is not yet well recognized despite its consequences for growth, bone metabolism and fertility. For this reason, clinicians should be aware of these diagnoses and potential endocrine dysfunction.

• 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.19 no.1
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• pp.49-56
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• 1992

Bone mineral density was measured to assess whether the patients with premonopausal hypogonadism, comprised of 19 patients with hypogonadotropic hypogonadism(HH), 55 with premature ovarian failure(POF), 23 with hyperprolactinemia(HPLN), and 8 with Sheehan's syndrome. All aged from 20 to 39, were associated with some decrease in regional bone mass compared with that of 63 normal-associated with some decrease in regional bone mass compared with that of 63 normal-cycling control women matched with age and sex. Measurement of bone mineral density was carried out using Dual photon absorptiometry at four sites; femur neck, ward's triangle, trochanter and spine(L2-L4). Bone mineral density at all four sites were significantly decreased in patients with HH(p<0.01), POF(p<0.01). In hyperprolactinemic patients, the decrease in bone mass was significant at femur neck and Ward's triangle(p<0.05). The patients with POF were noted to be associated with significant bone loss when their duration of amenorrhea exceeded one year. In this study, the degree of loss of bone mass and the affected sites seemed to be different depending on the various types of hypogonadism and POF was noted have caused the appearance of loss of bone mass earlier than other thpes of hypogondism we experienced.

• 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.

• Journal of Genetic Medicine
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• v.14 no.1
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• pp.27-30
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• 2017

Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown to have salt wasting and hyperpigmentation on the skin during the neonatal period and require intensive medical care. In addition, it is usually associated with hypogonadotropic hypogonadism in adolescence. The DAX1 gene is expressed in the adrenal cortex, pituitary gland, hypothalamus, testis, and ovary. We report on a patient with genetically confirmed AHC whose initial clinical presentations were consistent with congenital adrenal hyperplasia. A point mutation in the DAX1 gene identified in this report resulted in a truncated DAX1 protein. Our patient was diagnosed with AHC.

• Imaging Science in Dentistry
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• v.52 no.4
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• pp.421-427
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• 2022

McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by a clinical triad of polyostotic fibrous dysplasia (FD), skin pigmentation, and hyperfunctioning endocrinopathies. A 42-year-old man visited our medical hospital for the treatment of intermittent headaches and was diagnosed with MAS with acromegaly. This patient showed various clinical features of MAS, including pituitary adenoma, polyostotic FD, and hypogonadotropic hypogonadism. The FD lesions showed characteristic radiographic features, such as widespread, sclerotic bony lesions in the cranial bones, mixed radiolucent-radiopaque multilocular lesions in the mandible, and radiolucent lesions in the axial and appendicular skeleton. Over the years, the patient had been hospitalized multiple times due to accidental bony fractures associated with the fragile bony state of FD. This report presents a retrospective description of a case of MAS, with a review of the relevant literature.

• 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.