PURPOSES: Radiologic findings of hands in Turner syndrome(TS) which have been reported were metacarpal sign(MS), carpal sign(CS), phalangeal sign(PS), osteopenia, and delayed bone maturation. The aim of this study is to evaluate the difference of radiologic findings in TS, idiopathic short stature(ISS), and growth hormone deficiency(GHD). METHODS: Sixty girls with short stature were studied for chromosome analysis, and growth hormone provocation test. Simple radiography of hands was also used in this study. They were divided into three groups; 25 cases of TS(45, XO, 13 cases; variants, 12 cases), 24 cases of ISS, and 11 cases of GHD. MS was the distance between the line drawn tangential to the heads of the fourth and fifth metacarpal bones and the distal end of the third metacarpal head. CS was the angle between the line tangential to scaphoid and lunate and the line tangential to lunate and triquetrum. PS was the difference between the sum of the length of distal and proximal phalanges of the fourth finger and the length of the fourth metacarpus. Frequency of osteopenia and the shortening of the fifth middle phalanx among three groups were compared. RESULTS: MS was 0.06+/-4.66 mm in TS, -1.96+/-1.83 mm in ISS, and -2.63+/-30 mm in GHD. CS was 116.54+/-11.52degreein TS, 129.42+/-5.52degreein ISS, and 125.54+/-7.22degreein GHD. PS was 0.52+/-0.34 mm in TS, 0.38+/-0.20 mm in ISS, and 0.33+/-0.20 mm in GHD. There were statistically significant differences between TS and ISS, between TS and GHD, respectively in MS, CS, and PS(P<0.05). There were no significant differences in MS, CS, and PS between 45, XO and variants of TS. Osteopenia was observed in 92.3% of TS, and 54.2% of ISS, and 81.8% of GHD. Shortening of the fifth middle phalanx was observed in 56.0% of TS, 25.0% of ISS, and 45.5% of GHD. CONCLUSION: Simple radiologic findings of hands are helpful in differential diagnosis of TS and other short stature children.
Bone Diseases, Metabolic ; Child ; Diagnosis, Differential ; Female ; Fingers ; Growth Hormone ; Hand* ; Head ; Humans ; Metacarpal Bones ; Metacarpus ; Radiography ; Turner Syndrome*

OBJECTIVE: To study the bone development in adolescents in China, and establish forensic skeletal age standard for estimation of the criminal responsible age in 14 years old male adolescents. METHODS: One hundred and three healthy boys aged from 13 years and 9 months to 14 years and 3 months in Lengshuijiang, Hunan, China were enrolled in this study. X-ray films of their left hand-wrist were taken dorsaventrally, and 15 selected sites on the wrist X-ray films were examined and measured under standard condition. The development grade was confirmed by maximum percentage to establish a method to estimate the bone age, which was then checked by single blind method. RESULTS: Development grade of the first metacarpal bone and the first phalanx IV was partially closed (less than 1/3), but the rest was non-closed. The cross diameters of all the osteoepiphysis were wider than that of all the diaphysis. The development grade of the fourth metacarpal bone and the fifth metacarpal bone as well as the adjacent third phalanx were different in both younger age group (<14 years, mostly non-closed) and the older age group (>14 years, mostly closed). The confirmed accuracy (in 30 boys) was 80%. CONCLUSION Our study seems to be feasible in establishing the estimation standard for skeletal age determination using developmental metaphysis and anthropometry. The standard may be particularly helpful in forensic practice for estimation of accurate criminal responsible age in adolescents.
Adolescent ; Age Determination by Skeleton/methods* ; Anthropometry/methods* ; Bone Development/physiology* ; Carpal Bones/growth & development* ; Forensic Anthropology/methods* ; Hand Bones/growth & development* ; Humans ; Male ; Metacarpal Bones/growth & development* ; Reference Values

PURPOSE: The growth velocity in patients with central precocious puberty during treatment cannot be predicted. There is a positive correlation in growth among the long bones of the body and the length of the femur and tibia may determine individual height. We want to determine whether the second metacarpal bone can be used as a predictive index for growth velocity during gonadotropin-releasing hormone (GnRH) agonist treatment. METHODS: Thirty-four female children who were diagnosed with precocious puberty at our clinic and treated with GnRH agonist for about 1 year were included in this study. Patients who had growth-related disease, such as growth hormone deficiency and thyroid diseases were excluded. We reviewed their medical records retrospectively. We measured their height and the second metacarpal length from the X-ray film (left hand Anterior-Posterior at the time of their diagnosis and about a year after their GnRH agonist treatment. RESULTS: The age of the subjects was 8.5+/-0.6 years. The growth velocity during treatment was 4.9+/-1.2 cm/yr. There was a positive correlation between height and the second metacarpal length at diagnosis (P = 0.000, r = 0.666) and at one year after treatment (P = 0.000, r = 0.654). There was no correlation between the second metacarpal length at diagnosis and growth velocity during treatment for 1 year. CONCLUSION: We could not find the correlation between the second metacarpal length and growth velocity during GnRH agonist treatment for 1 year. However, the second metacarpal length showed a positive correlation with height before and after treatment. Therefore further study should be done to discovering the mechanisms working during GnRH agonist treatment including bone age, midparental height and so on.
Body Height ; Child ; Female ; Femur ; Gonadotropin-Releasing Hormone ; Growth Hormone ; Hand ; Humans ; Medical Records ; Metacarpal Bones ; Puberty, Precocious ; Retrospective Studies ; Thyroid Diseases ; Tibia ; X-Ray Film

PURPOSE: The growth velocity in patients with central precocious puberty during treatment cannot be predicted. There is a positive correlation in growth among the long bones of the body and the length of the femur and tibia may determine individual height. We want to determine whether the second metacarpal bone can be used as a predictive index for growth velocity during gonadotropin-releasing hormone (GnRH) agonist treatment. METHODS: Thirty-four female children who were diagnosed with precocious puberty at our clinic and treated with GnRH agonist for about 1 year were included in this study. Patients who had growth-related disease, such as growth hormone deficiency and thyroid diseases were excluded. We reviewed their medical records retrospectively. We measured their height and the second metacarpal length from the X-ray film (left hand Anterior-Posterior at the time of their diagnosis and about a year after their GnRH agonist treatment. RESULTS: The age of the subjects was 8.5+/-0.6 years. The growth velocity during treatment was 4.9+/-1.2 cm/yr. There was a positive correlation between height and the second metacarpal length at diagnosis (P = 0.000, r = 0.666) and at one year after treatment (P = 0.000, r = 0.654). There was no correlation between the second metacarpal length at diagnosis and growth velocity during treatment for 1 year. CONCLUSION: We could not find the correlation between the second metacarpal length and growth velocity during GnRH agonist treatment for 1 year. However, the second metacarpal length showed a positive correlation with height before and after treatment. Therefore further study should be done to discovering the mechanisms working during GnRH agonist treatment including bone age, midparental height and so on.
Body Height ; Child ; Female ; Femur ; Gonadotropin-Releasing Hormone ; Growth Hormone ; Hand ; Humans ; Medical Records ; Metacarpal Bones ; Puberty, Precocious ; Retrospective Studies ; Thyroid Diseases ; Tibia ; X-Ray Film

Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.
Adolescent ; Arm ; Congenital Abnormalities ; Constriction, Pathologic ; Diagnosis, Differential ; Displacement (Psychology) ; Dysostoses ; Ear ; Epiphyses ; Fingers ; Growth Disorders ; Hearing Loss, Sensorineural ; Humans ; Hypertelorism ; Intellectual Disability ; Korea ; Magnetic Resonance Imaging ; Metacarpal Bones ; Metatarsal Bones ; Neurologic Manifestations ; Nose ; Osteochondrodysplasias ; Palatine Tonsil ; Platybasia ; Skull ; Spinal Canal ; Spinal Stenosis ; Spine ; Toes ; Upper Extremity

PURPOSE: In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical manifestations, and comorbidities of Turner syndrome patients in Kyungpook National University Hospital to compare them to the recent hypotheses about sex chromosome gene loci related to Turner symptoms. MATERIALS AND METHODS: We identified the cytologic findings of 92 patients with Turner syndrome and the clinical findings of 62 patients among them. RESULTS: 54.3 percent of patients had 45,X while 45.7 percent showed other karyotype combinations (45,X/46,XX, 45,X/46,XX/47,XXX, 46,X,del(Xp), 46,X,del(Xq), 45,X/46,X,del(Xq), 46,X,i(Xq), 45,X/46,X,i (Xq)). The Turner symptoms found included short neck, high arched palate, broad chest, Madelung deformity, short metacarpals, scoliosis, cubitus valgus, low hair line, webbed neck, edematous extremities, pigmented nevus, and sexual infantilism. The specific diseases associated Turner syndrome included renal abnormalities, congenital heart disease, hearing defects, diabetes mellitus, hyperlipidemia, and decreased bone density. The phenotype of the mosaicism group was milder than that of the monosomy group. In the case of 46,X,del(Xp) and 45,X/46,X,del(Xq) groups, all had skeletal abnormalities, but the 46,X,del(Xq) group had none. In the case of 46,X,del(Xp) group, all showed short statures and skeletal abnormalities, but no sexual infantilism was observed. In the case of 46,X,i(Xq) and 45,X/46,X,i(Xq) groups, they all showed delayed puberty and had primary amenorrhea. CONCLUSION: It is important to study karyotype-phenotype correlations in patients with Turner syndrome to obtain interesting information about the genotype-phenotype correlations related to the X chromosome.
Bone Density ; Chromosome Aberrations ; Comorbidity ; Congenital Abnormalities ; Diabetes Mellitus ; Extremities ; Genetic Association Studies ; Growth Disorders ; Hair ; Hearing ; Heart Diseases ; Humans ; Hyperlipidemias ; Karyotype ; Korea ; Metacarpal Bones ; Monosomy ; Mosaicism ; Neck ; Nevus, Pigmented ; Osteochondrodysplasias ; Palate ; Phenotype ; Puberty, Delayed ; Scoliosis ; Sex Chromosomes ; Sexual Infantilism ; Thorax ; Turner Syndrome ; X Chromosome

Tumor-induced osteomalacia (TIO), or oncogenic osteomalacia (OOM), is a rare acquired paraneoplastic disease characterized by renal phosphate wasting and hypophosphatemia. Recent evidence shows that tumor-overexpressed fibroblast growth factor 23 (FGF23) is responsible for the hypophosphatemia and osteomalacia. The tumors associated with TIO are usually phosphaturic mesenchymal tumor mixed connective tissue variants (PMTMCT). Surgical removal of the responsible tumors is clinically essential for the treatment of TIO. However, identifying the responsible tumors is often difficult. Here, we report a case of a TIO patient with elevated serum FGF23 levels suffering from bone pain and hypophosphatemia for more than three years. A tumor was finally located in first metacarpal bone by octreotide scintigraphy and she was cured by surgery. After complete excision of the tumor, serum FGF23 levels rapidly decreased, dropping to 54.7% of the preoperative level one hour after surgery and eventually to a little below normal. The patient's serum phosphate level rapidly improved and returned to normal level in four days. Accordingly, her clinical symptoms were greatly improved within one month after surgery. There was no sign of tumor recurrence during an 18-month period of follow-up. According to pathology, the tumor was originally diagnosed as "lomangioma" based upon a biopsy sample, "proliferative giant cell tumor of tendon sheath" based upon sections of tumor, and finally diagnosed as PMTMCT by consultation one year after surgery. In conclusion, although an extremely rare disease, clinicians and pathologists should be aware of the existence of TIO and PMTMCT, respectively.
Bone Neoplasms ; blood ; complications ; diagnostic imaging ; pathology ; surgery ; Female ; Fibroblast Growth Factors ; blood ; Follow-Up Studies ; Humans ; Hypophosphatemia ; blood ; diagnostic imaging ; etiology ; pathology ; surgery ; Mesenchymoma ; blood ; complications ; diagnostic imaging ; pathology ; surgery ; Metacarpal Bones ; Middle Aged ; Neoplasms, Connective Tissue ; blood ; complications ; diagnostic imaging ; pathology ; surgery ; Osteomalacia ; blood ; diagnostic imaging ; etiology ; pathology ; surgery ; Phosphates ; blood ; Radiography