Arrhythmias, Cardiac ; Genetic Diseases, X-Linked/genetics* ; Gigantism/genetics* ; Heart Defects, Congenital/genetics* ; Humans ; Intellectual Disability/genetics* ; Male ; Neuroblastoma

Macrodactyly is one of the most difficult hand anomalies to treat not only surgically but medically as well. Little is known about the molecular pathways and lipid metabolism of this disease. To elucidate the potential mechanism of macrodactyly progress, we used the bioinformatical analysis including quantile normalization, principal component analysis, heatmap and volcano plot. For the functional bioinformatical study, lipid, lipoprotein and phospholipid metabolism of Kyoto Encyclopedia of Genes and Genomes, Wiki Pathways, and Reactome Pathway were utilized to compare the differentially expressed genes in macrodactyly with control group. We found up-regulation of CDK6 and E2F1, which are associated with the mitotic cell cycle of cancer cells. PIK3CG, associated with cancer and lipid metabolism, was also enriched in macrodactyly. In down-regulated genes, PTEN was highlighted in lipid metabolism, phosphatidylinositol signaling system and insulin signaling. ABCD3, related in peroxisomal import of fatty acids, was also down-regulated. In this study, we predicted the pathogenic candidate genes as well as the potential molecular pathways related to macrodactyly by identifying the signature genes. Signature genes through systems bioinformatical analysis can be utilized to catch the insight of the molecular pathogenesis of macrodactyly.
Cell Cycle ; Computational Biology ; Fatty Acids ; Genome ; Gigantism ; Hand ; Insulin ; Lipid Metabolism* ; Lipoproteins ; Metabolism ; Phosphatidylinositols ; Principal Component Analysis ; Transcriptome* ; Up-Regulation

Gigantism indicates excessive secretion of growth hormones (GH) during childhood when open epiphyseal growth plates allow for excessive linear growth. Case one involved a 14.7-year-old boy presented with extreme tall stature. His random serum GH level was 38.4 ng/mL, and failure of GH suppression was noted during an oral glucose tolerance test (OGTT; nadir serum GH, 22.7 ng/mL). Magnetic resonance imaging (MRI) of the brain revealed a 12-mm-sized pituitary adenoma. Transsphenoidal surgery was performed and a pituitary adenoma displaying positive immunohistochemical staining for GH was reported. Pituitary MRI scan was performed 4 months after surgery and showed recurrence/residual tumor. Medical treatment with a long-acting somatostatin analogue for six months was unsuccessful. As a result, secondary surgery was performed. Three months after reoperation, the GH level was 0.2 ng/mL and insulin-like growth factor 1 was 205 ng/mL. Case two involved a 14.9-year-old boy, who was referred to our department for his tall stature. His basal GH level was 9.3 ng/mL, and failure of GH suppression was reported during OGTT (nadir GH, 9.0 ng/mL). Pituitary MRI showed a 6-mm-sized pituitary adenoma. Surgery was done and histopathological examination demonstrated a pituitary adenoma with positive staining for GH. Three months after surgery, the GH level was 0.2 ng/mL and nadir GH during OGTT was less than 0.1 ng/mL. Pituitary MRI scans showed no residual tumor. We present two cases of gigantism caused by a GH-secreting pituitary adenoma with clinical and microscopic findings.
Brain ; Gigantism* ; Glucose Tolerance Test ; Growth Hormone* ; Growth Hormone-Secreting Pituitary Adenoma ; Growth Plate ; Humans ; Magnetic Resonance Imaging ; Male ; Neoplasm, Residual ; Pituitary Neoplasms* ; Reoperation ; Somatostatin

BACKGROUNDSubclinical apoplexy of pituitary functional adenoma can cause spontaneous remission of hormone hypersecretion. The typical presence of pituitary growth hormone (GH) adenoma is gigantism and/or acromegaly. We investigated the clinical characteristics of patients with spontaneous partial remission of acromegaly or gigantism due to subclinical apoplexy of GH adenoma.

METHODSSix patients with spontaneous remission of acromegaly or gigantism were enrolled. The clinical characteristics, endocrinological evaluation and imageological characteristics were retrospectively analyzed.

RESULTSIn these cases, the initial clinical presences were diabetes mellitus or hypogonadism. No abrupt headache, vomiting, visual function impairment, or conscious disturbance had ever been complained of. The base levels of GH and insulin growth factor-1 (IGF-1) were normal or higher, but nadir GH levels were all still > 1 µg/L in 75 g oral glucose tolerance test. Magnetic resonance imaging detected enlarged sella, partial empty sella and compressed pituitary. The transsphenoidal surgery was performed in 2 cases, and the other patients were conservatively managed. All the patients were in clinical remission.

CONCLUSIONSWhen the clinical presences, endocrine evaluation, biochemical examination and imageology indicate spontaneous remission of GH hypersecretion in patients with gigantism or acromegaly, the diagnosis of subclinical apoplexy of pituitary GH adenoma should be presumed. To these patients, conservative therapy may be appropriate.

Acromegaly ; diagnosis ; etiology ; Adolescent ; Adult ; Aged ; Female ; Gigantism ; diagnosis ; etiology ; Growth Hormone-Secreting Pituitary Adenoma ; complications ; Humans ; Immunohistochemistry ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pituitary Neoplasms ; complications ; Young Adult

Klinefelter syndrome is a congenital disease that is associated with the existence of an extra X chromosome, and is one of the most common causes of male primary hypogonadism. In addition to hypogonadism-associated manifestations such as testicular atrophy and infertility, it is also well known that this syndrome may be associated with other systemic comorbidities. In this report, we describe a typical case of Klinefelter syndrome that was differentially diagnosed as a cause of gigantism. A 20-year-old male was admitted to evaluate the cause of tall stature. His height was 193.4 cm, and all screening tests for gigantism were negative. Physical examination revealed no clear evidence of secondary sexual characteristics, and the results of a hormonal assay were highly suspicious for primary hypogonadism. Based on these findings, we performed a chromosomal analysis and confirmed Klinefelter syndrome with a 47, XXY karyotype.
Atrophy ; Chromosome Disorders ; Comorbidity ; Gigantism ; Humans ; Hypogonadism ; Infertility ; Karyotype ; Klinefelter Syndrome ; Male ; Mass Screening ; Physical Examination ; X Chromosome ; Young Adult

gigantism and asymmetry of the limbs, plantar hyperplasia, hemangiomas, lipomas, lymphangiomas, varicosities, verrucous epidermal nevi, macrocephaly, cranial hyperostosis, and long bone overgrowth. We diagnosed Proteus syndrome in a male patient who visited our hospital with a chief complaint of limited mouth opening and report the case because we obtained a good healing outcome after treating the condition with a corrective osteotomy.]]>
Congenital Abnormalities ; Extremities ; Gigantism ; Hemangioma ; Humans ; Hyperostosis ; Hyperplasia ; Lipoma ; Lymphangioma ; Macrocephaly ; Male ; Mouth ; Nevus ; Osteotomy ; Proteus ; Proteus Syndrome

Adolescent ; Female ; Gigantism ; diagnosis ; surgery ; Humans ; Limb Salvage ; methods ; Lipomatosis ; diagnosis ; surgery ; Upper Extremity ; pathology ; surgery

We report a case of breast gigantism in a patient with Wilson's disease treated with penicillamine. A 19-year-old female with alleged Wilson's disease visited our hospital due to diffuse enlargement of both breasts. She had been treated with penicillamine 1,000 mg/day since her age of 15 after diagnosis of Wilson's disease. At the initial presentation, there were diffuse skin thickenings in both lower inner breasts and huge lesion which replaced almost all the breast parenchyma. After gun biopsy and excision for tissue diagnosis, fibroadenoma with ductal epithelial hyperplasia was diagnosed. Although daily dose of penicillamine was lowed to 500 mg/day, her symptom progressed. After 1 year of follow up, she and her parents strongly wanted to remove her breasts because of distorted body shape and weight of breasts. The patients underwent subcutaneous mastectomy with the designed incision of the reduction mammoplasty for the future mammoplasty. Although the breast gigantism is a rare side effect of penicillamine, female patients should be followed up cautiously for the possible change of breasts. Because penicillamine is no more the first choice for Wilson's disease, it would be better to avoid using penicillamine for Wilson's disease patients especially for the young females.
Biopsy ; Breast* ; Diagnosis ; Female ; Fibroadenoma ; Follow-Up Studies ; Gigantism* ; Hepatolenticular Degeneration* ; Humans ; Hyperplasia ; Mammaplasty ; Mastectomy, Subcutaneous ; Parents ; Penicillamine* ; Skin ; Young Adult

We report a case of breast gigantism in a patient with Wilson's disease treated with penicillamine. A 19-year-old female with alleged Wilson's disease visited our hospital due to diffuse enlargement of both breasts. She had been treated with penicillamine 1,000 mg/day since her age of 15 after diagnosis of Wilson's disease. At the initial presentation, there were diffuse skin thickenings in both lower inner breasts and huge lesion which replaced almost all the breast parenchyma. After gun biopsy and excision for tissue diagnosis, fibroadenoma with ductal epithelial hyperplasia was diagnosed. Although daily dose of penicillamine was lowed to 500 mg/day, her symptom progressed. After 1 year of follow up, she and her parents strongly wanted to remove her breasts because of distorted body shape and weight of breasts. The patients underwent subcutaneous mastectomy with the designed incision of the reduction mammoplasty for the future mammoplasty. Although the breast gigantism is a rare side effect of penicillamine, female patients should be followed up cautiously for the possible change of breasts. Because penicillamine is no more the first choice for Wilson's disease, it would be better to avoid using penicillamine for Wilson's disease patients especially for the young females.
Biopsy ; Breast* ; Diagnosis ; Female ; Fibroadenoma ; Follow-Up Studies ; Gigantism* ; Hepatolenticular Degeneration* ; Humans ; Hyperplasia ; Mammaplasty ; Mastectomy, Subcutaneous ; Parents ; Penicillamine* ; Skin ; Young Adult

gigantism, hemihypertrophy, hypoglycemia, and the increased risk of solid tumor development from multiple cell lines. A macroglossia is a key component of the syndrome, and can lead to cosmetic, functional and psychologic disorder. This report shows a 5-year-old patient with Beckwith-Wiedemann syndrome, who had macroglossia and received reduction glossectomy.]]>
Abdominal Wall ; Beckwith-Wiedemann Syndrome ; Cell Line ; Child, Preschool ; Gigantism ; Glossectomy ; Humans ; Hypoglycemia ; Incidence ; Live Birth ; Macroglossia