• Journal of Yeungnam Medical Science
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• v.34 no.1
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• pp.80-83
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• 2017

A number of research papers have reported more frequent occurrence of rheumatic/autoimmune disease among patients with hypogonadism or a chromosomal anomaly with potential X-chromosome defects. A 30-year-old female patient came to the hospital with a main cause of bilateral buttock pain, which began two years ago and worsened seven days ago. Ankylosing spondylitis with invasion of both sacral-iliac joints was observed. On magnetic resonance imaging, although the uterus was observed normally, an ovary was not observed. In a chromosome test, balanced reciprocal X-1 translocation of 46,X,t(X;1)(p10;q10) was diagnosed. Here, we report on the first case involving ankylosing spondylitis accompanied by balanced reciprocal X-1 translocation.

• 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.

• The Journal of Dong Guk Oriental Medicine
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• v.2 no.1
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• pp.55-71
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• 1993

In order to investigate the effect of Cervus elaphus aqua-acupuncture on the hypogonadism in male rats, hydrocortisone acetate was adminsterd per mouse to induce hypogonadism and a series of Cervus elaphus aqua-acupuncture and normal saline aqua-acupuncture treatments were done into the loci corresponding to Shinsu($BL_{23}$) for 10 days. The level of urinary 17-ketosteroids. serum FSH, prolactin, LH, testosterone and body weight were measured. The obtained results are summarized as follows. 1. The level of urinary 17-ketosteroids was increased by Cervus elaphus aqua-acupuncture with the statistical significance as compared with the control group. 2. The level of serum FSH was increased by Cervus elaphus aqua-acupuncture with the statistical significance as compared with the control group. 3. The level of serum prolactin was increased by Cervus elaphus aqua-acupuncture with the statistical significance as compared with the control group. 4. The level of serum LH was increased by Cervus elaphus aqua-acupuncture with the statistical significance as compared with the control group. 5. The level of serum testosterone was decreased by Cervus elaphus aqua-acupuncture with the statistical significance as compared with the control group. 6. Body weight change was increased by 3rd, 6th and 9th day after the Cervus elaphus aqua-acupuncture and 3rd,6th day after normal saline aqua-acupuncture with the statistical significance as compared with the control group.

• 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.

• Clinical and Experimental Pediatrics
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• v.55 no.7
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• pp.224-231
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• 2012

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in infancy, followed by overeating with severe obesity, short stature, and hypogonadism later in development. This paper reviews recent updates regarding the genetic aspects of this disorder. Three mechanisms (paternal deletion, maternal disomy, and deficient imprinting) are recognized. Maternal disomy can arise because of 4 possible mechanisms: trisomy rescue (TR), gamete complementation (GC), monosomy rescue (MR), and postfertilization mitotic nondisjunction (Mit). Recently, TR/GC caused by nondisjunction at maternal meiosis 1 has been identified increasingly, as a result of advanced maternal childbearing age in Korea. We verified that the d3 allele increases the responsiveness of the growth hormone (GH) receptor to endogenous GH. This paper also provides an overview of endocrine dysfunctions in children with PWS, including GH deficiency, obesity, sexual development, hypothyroidism, and adrenal insufficiency, as well as the effects of GH treatment. GH treatment coupled with a strictly controlled diet during early childhood may help to reduce obesity, improve neurodevelopment, and increase muscle mass. A more active approach to correct these hormone deficiencies would benefit patients with PWS.

• 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.

• 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 Korean Neurosurgical Society
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• v.41 no.4
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• pp.255-257
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• 2007

Lymphocytic hypophysitis [LH] is characterized by lymphocytic pituitary infiltration, which occurs mostly during or after pregnancy. Its involvement in male is very rare. The authors report herein a LH mimicking pituitary macroadenoma-clinically and radiologically in male patient who presented with visual disturbance and hypogonadism.

• 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.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.8 no.1
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• pp.133-138
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• 1997

Prader Willi Syndrome(PWS) was first recognized and reported by Prader-Willi. The etiology of the syndrome is not fully understood, but 50-70% of the patients show small deletion in chromosome 15. Manifested symtoms vary according to developmental age. In early life, hypotonia, areflexia, feeding difficulties, hypothermia, microgenitalia, hypoplastic scrotum, cryptochordism were observed. But in several years, hypotonia disappears, and polyphagia, decreased satiety, psychomotor retardation, obesity, hypogonadism and short stature become main problems. Behavioural problems including temper and aggressive outbursts, stealing food, hoarding food, and self excoriating skin picking, trichotillomania are more prominent during adolescence and young adulthood. Also, irritable, depressed mood are described. Lots of psychological and behavioural problems explain the reason why psychiatrists have managed and reported this syndrome. However, there has been no official report of PWS in our country. So authors report the clinical characteristics and issues in management of a patient with PWS.