Endocrinology and Metabolism

Original Articles

A Study of Point Mutations of Human Insulin-like Growth Factor - 1 (IGF - 1) Promoter Gene in Familial Short Stature (FSS) Patients.: In Myung Yang, Jeong Taek Woo, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, Young Kil Choi, Hyun Ha Chang, In Kyung Jung, Tae Kwan Park; J Korean Endocr Soc. 1996;11(4):500-509. Published online November 7, 2019

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Abstract PDF: Background
FSS is a normal variants in Korea, but some of them had defect of noctumal GH pulse i.e. neurosecretory dysfunction. Although Korean children had strikingly got higher final height in the last decade. We are interested in what kinds of differences were existed in FSS group. Previous study showed theres no difference of GH related biochemical markers between normal and FSS group, like IGF-I, IGFBP-3 etc. We analyzed molecular difference in FSS group. Methods: We screened 23 FSS patients and 16 normal controls to IGF-I gene prornoter region with PCR-SSCP (single strand conformation polymorphisrn) method and sequenced 1 FSS patients who had abnormal SSCP band. Results: We found 1 out of 23 patients with abnormal SSCP band (none for 16 controls). Their IGF-I promoter gene were sequenced with modified Maxam-Gilbert method. One subject had 2 point mutations(+8 and +74). Conclusion: We found point mutations of IGF-I promoter in FSS group, This position was regarded as HNF(hepatic nuclear factor)-3 binding sites. We needed more study for the detection of its biological function according io linear growth with in vivo and in vitro study.

Effect of Dexamethasone and Deflazacort on the Function and Gene Expression of the Primary Cultured Human Osteoblast-Like Cells.: Hyun Koo Yoon, In Myung Yang, Sung Woon Kim, Soung Seol Kim, Young Kil Choi, Ho Yeon Chung, Young Soon Kang, In Gul Moon, Chang Hoon Yim, Sang Woo Kim, Ki Ok Han, Hak Chul Chang, In Kwon Han; J Korean Endocr Soc. 1996;11(4):479-491. Published online November 7, 2019

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Abstract PDF: Background
Chronic use of glucocorticoid is known to result in osteoporosis. Deflazacort (DFZ), a synthetic glucocorticoid, has been reported to have bone sparing properties in vivo eompared to dexamethasone(DEX). Not only the direct effect of DFZ on human osteoblast but the mechanism by which the drug spares bone remains unclear. This study, therefore, is aimed to investigate the direct effect of DFZ on the proliferation and differentiation of human osteoblast as well as on the gene expression of osteocalcin and osteoblast as well as on the gene expression of osteocalcin and growth factor produced in osteoblast. Methods: Human osteoblast-like cells were cultured from a piece of the tibia removed during selective orthopedic surgery for patients without metabolic bone diseases. The morphological iden- tification of osteoblast-like cell was performed under the light microscope after alkaline phosphatase staining. Cell proliferation rate was determined by [3H] thymidine incorporation into DNA. Cell differentiation was determined by alkaline phophatase activity. mRNA expression was quanti- tatively measured by the competitive reverse transcription-polymerase ehain reaction(RT-PCR). Results: The cultured cells demonstrated 1,25-dihydroxyvitamin D3-induced increases in alkaline phophatase activity and osteocalcin mRNA expression which are the properties of osteoblast. Twenty six percent of the cultured cells were identified as osteoblast-like cells by alkaline phophatase staining. After 24hr incubation with DEX or DFZ, the [3H) thymidine incorporation was significantly inhibited by 100nM DEX or DFL Alkaine phophatase activity was significantly increased by 100nM DEX. Osteocalcin mRNA was significantly decreased by both glueocorticoids. While DEX significantly suppressed expression of asteocalcin mRNA at 10nM and 100nM, DFZ did so only at 100nM. IGF-I mRNA was significantly decreased by 100nM DEX. Conclusion: These results suggest that the inhibitory effect of DFZ on the cell proliferation and protein synthesis is less than that of DEX, which might be responsible for the bone sparing effect of DFZ in vivo.

Expression of Exon 1 and 6 of Indulin-like Growth Factor - 1 (IGF - 1) Gene in Thyroid Tissues.: Sung Woon Kim, Hyun Ha Chang, In Kyung Jung, Jeong Taek Woo, In Myung Yang, Jin Woo Kim, Soung Seol Kim, Young Kil Choi; J Korean Endocr Soc. 1996;11(4):409-417. Published online November 7, 2019

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Abstract PDF: Background
Goiter has been a common problem in the thyroid disease. The exact mechanism of goiter had not been clarified yet, but some goiters were increased with TSH(thyrotropin releasing hormone) dependent manner. TSH might be a major influencing factor for increasing size of goiter(goitrogen) and theres many cofactors those influenced to goiter size. One of the rnost prominent growth factor as a goitrogen is a IGF-I(insulin-like growth factor-I). IGF-I play a great role as a cofactor of goitrogen with TSH. This study, therefore, is aimed to investigate intracellular activation of IGF-I gene promoter in the surgical specimens of thyroid tumor. Methods: We used surgical specimen of various thyroid tissues from normal to malignant along its cell nature. Actually we used normal liver tissue as a IGF-I control tissue, normal thyroid, benign adenoma, and papillary thyroid cancer tissue with its malignat nature. We checked Mrna expression of whole IGF-I and IGF-I exon 6 by Northern blot method, and IGF-I, promoter 1 expression by RT-PCR-transcription method. Autoradiographied signals were analysed with densitometer. Results: We found whole IGF-I mRNAs were expressed with alternate splicing in exon 1, 2 and exon 4, 5 respectively. Striking events of IGF-I transcription were multiple tranascription initiatian in Pl and P2, and 3 sites for polyadenylation in exon 6. Four or more Mrna bands in Northern blot analysis of IGF-I(0.8, 1.4, 4.2, and 7.8kb) were noted. In low molecular weight IGF-I Mrna did not change their signal intensity with tissues, but exan 6(7.8kb) signals were significantly increased to its hepatic expression levels in malignant tissue. IGF-I, exon 1 expression by RT-PCR-T7 transcription was strikingly increased in thyroid cancer tissue, but exon 6 expression was not a great expession. Conclusion: One possible guess for this expression discrepancy of each exon may be originated from different Mrna degradation of each IGF-I signals. We need more preeise experiment for Mrna degradation speed of IGF-I.

Increased Somatostatinergic Activity Induced by Acute Hyperglycemia is Not Mediated by Stimulation of the Beta-adrenergic System.: Seung Jae Hong, In Myung Yang, Gyu Choon Lee, Jeong Taek Woo, Sung Woon Kim, Jin Woo Kim, Soung Seol Kim, Young Kil Choi; J Korean Endocr Soc. 1996;11(4):383-390. Published online November 7, 2019

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Abstract PDF: No abstract available.

Assessment of Growth Hormone Status.: Sung Woon Kim; J Korean Endocr Soc. 1996;11(3):263-267. Published online November 7, 2019

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Abstract PDF: No abstract available.

Insulin Like Growth Factor-I and Insulin Like Growth Factor Binding Protein-3 in Human Thyroid Cystic Fluids.: In Myung Yang, Jeong Taek Woo, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, Young Kil Choi, Byoung Joon Kim, Seung Joon Oh; J Korean Endocr Soc. 1995;10(4):395-404. Published online November 7, 2019

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Abstract PDF: In the thyroid tissue, thyrotrophin(TSH) and IGF-I played major role of the goitrogen. But the evidences and precise mechanism of these two factors were not known so much. Actually local secretion of thyroid IGF-I was originated from its fibroblasts mainly. We guessed major roles of IGFs in the thyroid tissue were local paracrine effect of thyroid cells proliferation and differentiation which concert with TSH. Recently, some reporters described the source of thyroid IGF-I were partly from thyroid follicular cells and its action were synergistic with TSH. We measured TSH, IGF-I and IGFBP-3 from sera and thyroid cystic fluids in 36 patients with simple thyroid cyst and examined into correlation between TSH, IGF-I and IGFBP-3.1) According to cyst/serum TSH ratio, we classified two groups(Group I; c/s TSH <1, n=19. Group II; c/s TSH >1, n=17). This classification criteria means that cystic TSH level were increased than that of serum or not.2) The serum TSH, IGF-I and IGFBP-3 levels are not difference between group I and II.3) Cystic TSH were dependent on the serum TSH in Group I, but negative correlation in Group II. In Group II, cystic TSH was significant increased.4) Serum IGF-I were positive correlation in each Group5) In Group II, cystic IGF-I was not exceed than those of serum IGF-I, but some cystic IGFBP-3 were more increased than those of serum.6) In Group II, cystic IGFBP-3 increased than serum TSH, and cystic IGFBP-3 was positive correlation with cystic TSH and cystic IGF-I.As these data suggested that cystic TSH and cystic IGF-I levels may influence cystic IGFBP-3 level. The main effect for maintenance of cyst was mediated by cystic TSH and cystic IGFBP-3. But the cystic IGFBP-3 has major role for thyroid cyst than cyst TSH.

Changes of Bone Turnover Markers after Treatment with Growth Hormone Therapy in Children with Growth Retardation.: In Myung Yang, Jeong Taek Woo, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, Young Kil Choi, Ki Oak han, Duk Yoon Kim, Hyung In Yang; J Korean Endocr Soc. 1994;9(4):344-349. Published online November 6, 2019

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Abstract PDF: The effects of growth hormone(GH) deficiency and recombinant human GH replacement(0.5IU/kg per week) on bone mineral metabolism in 21GH-deficiency children were studied. All children had significantly reduction of bone density(Z score;-1.4+-0.71). After 1 month of therapy, the levels of serum insulin-like growth factor 1(IGF-1), osteocalcin(OC) and carboxyterminal propeptede of type 1 procollagen(PICP) were significantly elevated. But IGFBP-3 were not shown to change significantly. The changes in serum levels of PICP during the first month of recombinant human GH treatment were positively related to growth velocity, whereas the changes in IGF-1 and OC during the first month of therapy were not. We conclude that the recombinant human GH treatment caused significant modifications of mineral metablism and that the measurement of the changes of biochemical markers of bone metablism espacially PICP may be a useful tool in prediction improved growth velocity during long term GH replacement therpy.

Identification of TPA - Response Element (TRE) in the Rat Thyrotropin - Releasing Hormone (TRH) Gene.: Woon Won Jung, Young Kil Choi, In Myung Yang, Kwang Sik Seo, Jeong Taek Woo, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, Young Kil Choi, Seung Joon Park; J Korean Endocr Soc. 1994;10(3):200-213. Published online November 6, 2019

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Abstract PDF: There are two potential imperfect copies of the TRE consensus sequence between -47 and -113bp position on 5' upstream of the rat TRH gene. The upstream element(5'-TGcCgTCA-3') is located between -101 bp and -94 bp, and the downstream element(5'-TGAcCTCA-3') is positioned between -59bp and -52bp relative to the stranscription start site. The downstream variant differs from the consensus sequence of TRE(AP-1)(5'-TGACTCA-3'), by addition of one nucleotide. As there is no direct evidence that TPA stimulates the transcription of rat TRH gene, and there is no study to define TRE of the rat TRH gene, we performed Northern blot assay, transient gene expression study and gel shift assay to identify TRE. TRH mRNA expression of CA77 cells was increased about 2-2.5 fold 30 min after TPA stimulation. When PC12 cells were stimulated by TPA after transfection of the plasmids containing serially deleted 5'upstream of the rat TRH gene ligated to luciferase gene, the transcription of luciferase gene was increased more than 3.2 fold with the plasmid pTRH(-600/84)Luc and pTRH(-113/84)Luc. However, the transcriptional activation was remarkably decreased less than 1.6 fold with pTRH(-77/84)Luc, pTRH(-47/84)Luc, and pTRH(6/84)Luc. The plasmid containing the sequence of -108/-79 did not show any significant activation in both of basal and TPA-stimulated transcription, whereas the plasmid containing the sequence of -70/-41 showed a slight but significant transcriptional activation by TPA. The plasmid containing the sequence of -114/-47 showed remarkable increase in basal transcription and TPA induced transcription of luciferase gene. Gel shift assay revealed that the oligonucleotides spanning -108/-79 and -70/-41 bound to c-Jun, whereas the oligonucleotides spanning -40/1, 1/30, 31/60, 61/84 did not bind. The oligonucleotide of -70/-41 bound to c-Jun with higher affinity compared to that of -108/-79. The one base pair mutant of -70/-41(deletion of C from the middle of TGACCTCA) bound to c-Jun with higher affinity, whereas the one base pair replaced mutant(C to G) bound with lower affinity compared to the wild type oligonucleotide. These results suggest that the rat TRH gene expression is stimulated by TPA to a smaller degree compared to that of other genes, and the two elements act cooperatively as TRE. The downstream TRE variant is mainly responsible for TPA response and c-Jun binding, and the upstream variant play a permissive role for transcriptional activation. The addition of one nucleotide C in the downstream element may be responsible for the relatively lower response of the rat TRH gene to TPA.

The Responses of Pituitary Hormones to the Combined Pituitary Stimulation Test in Hypogonadotropic Hypogonadism.: In Myung Yang, Jeong Taek Woo, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, Young Kil Choi, Eun Kyung Park, Kyu Jeong Ahn; J Korean Endocr Soc. 1994;9(2):93-107. Published online November 6, 2019

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Abstract PDF: To classify the causes of hypogonadotropic hypogonadism in Korean patients, and to improve the endocrinologic evaluation for the disease, we retrospectively studied the clinical findings and result of combined pituitary stimulation test in 35 patients with hypogonadotropic hypogonadism. The following results were obtained.1) The ratio of male to female was 1.3:1, and the 50% of male patients was under 20 years of age and the 20% of female patients in 30th decades. 2) The chief complaints of male patients on the admission were the failure of secondary sexual characteristics(95.0%) and loss of hair(5.0%), those of female patients were amenorrhea(46.7%), infertility(26.7%), failure of secondary characteristics(13.3%) and loss of hair(13.3%). 3) The causes of male hypogonadotropic hypogonadism were craniopharyngioma(35.0%), idiopathic(30.0%), Kallmann's syndrome(15.0%), pituitary adenoma(10.0%) and germinoma(5.0%), and those of female hypogonadotropic hypogonadism were prolactinoma(13.3%), Sheehan's syndrome(26.6%), pituitary adenoma(6.7%), tuberculous granuloma(6.7%), germinoma(6.7%), idiopathic hypogonadotropic hypogonadism(40.0%).4) The responses of LH and FSH to GnRH test were absent or markedly blunted in diffuse pituitary diseases such as pituitary tuberculous granuloma, pituitary macroadenomas, Sheehan's syndrome. However those were also absent or blunted in Cushing's disease and hypothalamic disease such as Kallmann's syndrome, germinoma, craniopharyngioma, idiopathic hypogonadotropic hypogonadism. 5) The responses of LH, FSH increased after repeated injection of GnRH in a patient with germinoma. 6) In diffuse destructive pituitary diseases such as Sheehan's syndrome, nonfunctioning macroadenomas, tuberculous granuloma, large prolactinoma, the combined deficiency of pituitary hormones other than gonadotropins was observed. 7) In many cases with hypothalamic diseases, the combined defects of pituitary hormone response were also seen.These data suggest that GnRH test is not always useful to localize the lesion between pituitary and hypothalamus, and combined pituitary stimulation test revealed defects of pituitary hormones other than gonadotropin in various hypothalamic diseases.Therefore repeated GnRH test would be useful for the differential diagnosis, and CRH test and GRH test would be necessary to demonstrate whether pituitary abnormality is present.

Thyroid
Insufficient Experience in Thyroid Fine-Needle Aspiration Leads to Misdiagnosis of Thyroid Cancer: Jung Il Son, Sang Youl Rhee, Jeong-taek Woo, Won Seo Park, Jong Kyu Byun, Yu-Jin Kim, Ja Min Byun, Sang Ouk Chin, Suk Chon, Seungjoon Oh, Sung Woon Kim, Young Seol Kim; Endocrinol Metab. 2014;29(3):293-299. Published online September 25, 2014; DOI: https://doi.org/10.3803/EnM.2014.29.3.293

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Abstract PDF Supplementary Material PubReader

Background

Fine-needle aspiration (FNA) of the thyroid is a widely accepted confirmatory test for thyroid cancer with high sensitivity and specificity. FNA is a simple procedure that is learned by many clinicians to enable accurate diagnosis of thyroid cancer. However, it is assumed that because the FNA test is a relatively simple procedure, its cytologic results are reliable regardless of the operator's experience. The aim of this study was to evaluate the differences in the diagnostic indices of FNA between operators with different levels of experience.

Methods

A total of 694 thyroid FNA specimens from 469 patients were reviewed, and were separated based on the experience of the clinicians who performed the procedure. One hundred and ninety were categorized in the experienced group, and 504 in the inexperienced group. All FNA results were then compared with histological data from surgically resected specimens, and the sample adequacy and diagnostic accuracy of the groups were compared.

Results

The age, gender, and nodule size and characteristics were similar in both groups. The sample adequacy rate was not significantly different between the experienced and nonexperienced groups (96.3% vs. 95.4%, P=0.682). However, the non-experienced group had a higher false-negative rate than the experienced group (6.4% vs. 17.2%, P=0.038), and the sensitivity of the FNA test also tended to be lower in the nonexperienced group (95.6% vs. 88.9%, P=0.065).

Conclusion

These results suggest that FNA operators who have less experience may miss cases of thyroid cancer by performing the procedure incorrectly. As such, the experience of the FNA operator should be considered when diagnosing thyroid cancer. When clinicians are being trained in FNA, more effort should be made to increase the accuracy of the procedure; therefore, enhanced teaching programs and/or a more detailed feedback system are recommended.

Citations

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The Role of MMP-9 and MMP-9 Inhibition in Different Types of Thyroid Carcinoma
Zhenshengnan Li, Jia Wei, Bowen Chen, Yaoqi Wang, Shuai Yang, Kehui Wu, Xianying Meng
Molecules.2023; 28(9): 3705. CrossRef
Telecytology rapid onsite evaluation, with real-time communication between cytopathologist, cytotechnologist, and proceduralist, offers better adequacy rates for lymph node, but not thyroid, fine-needle aspirations
Robert Post, Kelly Doxzon, Allison Goldberg
Journal of the American Society of Cytopathology.2023; 12(6): 407. CrossRef
Needle Biopsy Adequacy in the Era of Precision Medicine and Value-Based Health Care
Kenneth P. H. Pritzker, Heikki J. Nieminen
Archives of Pathology & Laboratory Medicine.2019; 143(11): 1399. CrossRef
The expression profile of integrin receptors and osteopontin in thyroid malignancies varies depending on the tumor progression rate and presence of BRAF V600E mutation
Galina Chernaya, Nina Mikhno, Tatiana Khabalova, Svetlana Svyatchenko, Lyudmila Mostovich, Sergey Shevchenko, Lyudmila Gulyaeva
Surgical Oncology.2018; 27(4): 702. CrossRef
Can thyroid surgery be decided based on ultrasonographic findings, irrespective of cytopathological findings? Five-year retrospective study in a district general hospital
A.A. Elsayed, C. Murdoch, S. Murray, K. Bashir
Clinical Radiology.2017; 72(2): 170. CrossRef
Efficacy of ultrasound‐guided fine‐needle aspiration performed by surgeons newly trained in thyroid ultrasound
Agnaldo J. Graciano, Carlos A. Fischer, Carlos T. Chone, Giuliano S. Bublitz, Marina Sonagli, Cezar A. Rodrigues Filho
Head & Neck.2017; 39(3): 439. CrossRef
Usefulness of NRAS codon 61 mutation analysis and core needle biopsy for the diagnosis of thyroid nodules previously diagnosed as atypia of undetermined significance
Eun Kyung Jang, Won Gu Kim, Eui Young Kim, Hyemi Kwon, Yun Mi Choi, Min Ji Jeon, Jung Hwan Baek, Jeong Hyun Lee, Tae Yong Kim, Young Kee Shong, Jene Choi, Dong Eun Song, Won Bae Kim
Endocrine.2016; 52(2): 305. CrossRef
Articles in 'Endocrinology and Metabolism' in 2014
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Endocrinology and Metabolism.2015; 30(1): 47. CrossRef
Carcinosarcoma of the Thyroid Gland
Mehmet Fatih Ekici, Cengiz Kocak, Zülfü Bayhan, Sezgin Zeren, Faik Yaylak, Mehmet Hüseyin Metineren, Fatma Emel Kocak
Case Reports in Surgery.2015; 2015: 1. CrossRef
Letter: Insufficient Experience in Thyroid Fine-Needle Aspiration Leads to Misdiagnosis of Thyroid Cancer (Endocrinol Metab2014;29:293-9, Jung Il Son et al.)
Hyon-Seung Yi, Sihoon Lee
Endocrinology and Metabolism.2014; 29(4): 590. CrossRef
Response: Insufficient Experience in Thyroid Fine-Needle Aspiration Leads to Misdiagnosis of Thyroid Cancer (Endocrinol Metab2014;29:293-9, Jung Il Son et al.)
Jung Il Son, Jeong-taek Woo
Endocrinology and Metabolism.2014; 29(4): 592. CrossRef

Case Reports

A Case of Primary Adrenal Insufficiency in a Patient with Acquired Immunodeficiency Syndrome.: Jae Ho Choi, Suk Chon, Yu Chul Hwang, Jun Seong Son, Seung Joon Oh, Kyu Jeung Ahn, Ho Yeon Chung, Jeong Taek Woo, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, In Kyung Jeong; Endocrinol Metab. 2011;26(3):253-257. Published online September 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.3.253

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Abstract PDF

The adrenal gland is the most commonly involved endocrine organ in patients infected with the human immunodeficiency virus (HIV). Adrenal function abnormality is more common in HIV patients than in the general population. It is important to recognize the condition of adrenal insufficiency, as this adrenal disorder may prove fatal if left untreated. Herein, we report a case of primary adrenal insufficiency in a 37-year-old male patient with acquired immunodeficiency syndrome. The patient complained of fever, general weakness, and fatigue. Impaired adrenal function was noted in the rapid ACTH stimulation test. After steroid supplementation, the patient's symptoms were improved. Therefore, HIV care physicians should ascertain adrenal dysfunction in HIV patients when they complain of fever and general weakness.

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A Case Report of Adrenal Insufficiency Treated with Korean Medicine
Young-ji Kim, Jung-yeon Kwon, Ho-yeon Go, Kyung-hwan Kong
The Journal of Internal Korean Medicine.2017; 38(5): 583. CrossRef

A Family Presenting with Catastrophic Features due to Pheochromocytoma Associated with Multiple Endocrine Neoplasia 2A.: Yun Jung Lee, Suk Chon, Sang Ho Lee, Tae Won Lee, Chun Gyoo Ihm, Tae June Noh, Seungjoon Oh, Jeong Taek Woo, Sung Woon Kim, Jin Woo Kim, Young Seol Kim; Endocrinol Metab. 2010;25(2):135-141. Published online June 1, 2010; DOI: https://doi.org/10.3803/EnM.2010.25.2.135

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Abstract PDF: Multiple endocrine neoplasia 2A (MEN 2A) is an autosomal dominant disease that consists of medullary thyroid carcinoma (MTC), pheochromocytoma and parathyroid hyperplasia. The activation of germ-line mutations in the RET proto-oncogene are responsible for MEN 2A. We describe here a rare case of MEN 2A in a patient who presented with an acute catecholamine-induced cardiomyopathy with cardiogenic shock and acute renal failure. The patient was diagnosed with pheochromocytoma and MTC associated with MEN 2A, which was confirmed by the detection of a RET proto-oncogene mutation at exon 11 on codon 634 (Cys634Arg). During familial screening, the patient's younger sister was found to have a benign thyroid nodule. Re-evaluation of this thyroid nodule revealed MTC with the same gene mutation. We also provide a review of the relevant literature.

A Case of Type I Osteogenesis Imperfecta Differentially Diagnosed as a Cause of a Spinal Compression Fracture.: Sang Youl Rhee, Soo Young Moon, Suk Chon, In Kyung Jeong, Seungjoon Oh, Kyu Jeung Ahn, Ho Yeon Chung, Jeong Taek Woo, Sung Woon Kim, Young Seol Kim, Jin Woo Kim; J Korean Endocr Soc. 2007;22(6):446-452. Published online December 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.6.446

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Abstract PDF: Osteogenesis imperfecta (OI) is a genetic disease that is caused by a synthetic anomaly of type I collagen. It is characterized by such features as low bone density, multiple fractures, bone deformities and chronic bone pain. According to the hereditary pattern and degree of phenotypical expression, it also has various extraskeletal manifestations such as blue sclera, hearing deformities and dentinogenesis imperfecta. Recently, an expanded seven subgroup classification of OI has been suggested by means of its clinical severity and mutational characteristics. However, most of the OI cases reported in Korea have been classified as type II or III that can be diagnosed easily and present with severe clinical manifestations. Only rare type I OI cases have been currently reported in Korea. Herein, we report a case of type I OI that was differentially diagnosed as a cause of a spinal compression fracture.

A Case of Osteomalacia Caused by Severe Vitamin D Deficiency.: Seok Yeon Kim, Sang Youl Rhee, Soo Young Moon, Suk Chon, In Kyung Jeong, Seungjoon Oh, Kyu Jeung Ahn, Deog Yoon Kim, Ho Yeon Chung, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, Jeong Taek Woo; J Korean Endocr Soc. 2007;22(1):55-61. Published online February 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.1.55

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Abstract PDF

Vitamin D is a kind of hormone that can be synthesized in the skin or it is supplied in the diet it is involved in a central role in bone and calcium homeostasis in vivo. Metabolic bone diseases such as rickets in children and osteomalacia in adults can also be caused by deficiency or metabolic defects in the vitamin D hormone related system. However, there has been a lack of generalized epidemiologic studies about the vitamin D deficiency status in Koreans. We recently experienced a case of osteomalacia caused by severe vitamin D deficiency. These kinds of case have not been reported elsewhere in Korea for the last twenty years.

Citations

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A Case of Nutritional Osteomalacia in Young Adult Male
Choong-Kyun Noh, Min-Jeong Lee, Bu Kyung Kim, Yoon-Sok Chung
Journal of Bone Metabolism.2013; 20(1): 51. CrossRef

A Case of Cushing's Disease due to Pituitary Microadenoma Combined with Primary Empty Sella Syndrome.: Yun Jung Lee, Sangyoul Rhee, Suk Chon, Seungjoon Oh, Jeong Taek Woo, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, Byung Wook Lee, Jung Won Jeon; J Korean Endocr Soc. 2006;21(6):567-571. Published online December 1, 2006; DOI: https://doi.org/10.3803/jkes.2006.21.6.567

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Abstract PDF: An empty sella is defined as a sella which, regardless of its size, is completely or partly filled with cerebrospinal fluid. The endocrine function of primary empty sella syndrome is usually normal, but sometimes this syndrome is associated with complete or partial pituitary insufficiency and rarely hypersecretion of pituitary hormone. Primary empty sella syndrome combined with Cushing's disease has rarely been reported. A 45-years-old woman presented with cushingoid feature. Her urinary cortisol and 17-hydroxycorticosteroid excretion were increased. The results of endocrine function testing were suggestive of Cushing's disease. Sella MRI showed of partially empty sella and pituitary microadenoma. The pituitary microadenoma was removed by the trans-sphenoidal approach. We report here on this case together with a review of the literature.

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