No abstract available.
Dwarfism*

In 1980, the clinical syndrome of X-linked agammaglobulinemia and isolated growth hormone defieiency (XLA/IGHD) was first described by Fleisher. We report here 25-year old man with isolated growth hormone deficiency and X-linked agammaglobulinemia. His height was below the third percentile. He had recurrent sinopulmonary infection, lacked circulating B lympocytes and had deficient growth hormone.
Adult ; Agammaglobulinemia* ; Dwarfism, Pituitary ; Growth Hormone ; Humans

Hypochondroplasia is a form of short
Achondroplasia ; Christianity ; Dwarfism ; Extremities ; Hand

Growth hormone deficiency (GHD) is a common cause of dwarfism. Most GHD patients are sporadic, whilst 5%-30% are of familial type. X-linked GHD patients are relatively rare. We hereby provide a literature review and report on our latest findings of the disease.
Dwarfism, Pituitary ; diagnosis ; genetics ; Genetic Association Studies ; Humans

Adequate growth is the most importment and principal factor in the fields of pediatrics and also it is great concern to all parents. There are many causes of short stature, secondary to a variety of causes. Clinical evaluation of short stature requires a wide variety of clinical, radiographic, pathologic, and biochemical tools. The most important thing is early and accurate diagnosis of disease. As a first step to do so, we performed the clinical analysis of 25 short statured children who had been admitted to Severance Hospital in recent 10 years. Results were as follows; 1) In 25 cases, male were 11 and female were 14 cases. Etiologically, contitutional slow growth 2, mongolism 1, gargoylism 3, achondroplasia 3, spondylometaphyseal dsplasia 1, cretinism 12, and pitutary dwarfism 3 cases.2) Chronological age at the beginning of diagnostic approach were generally delayed. 3) Height age and bone age of dwarfism were markedly retarded than chronological age wheras weight age showed no specific relationship except in case of malnutrition. 4) skeletal dysplasia and endocrine dwarfism, bone age was retarded than height age. But in constitutional slow growth, discrepancy was not marked. 5) Head circumference in each type of short stature was variable. 6) Diagnostic methods include measurement of height and bone age, X-ray, thyroid function test, growth hormone stimulation test and chromosome study.
Achondroplasia ; Child ; Congenital Hypothyroidism ; Diagnosis ; Down Syndrome ; Dwarfism ; Female ; Growth Hormone ; Head ; Humans ; Male ; Malnutrition ; Mucopolysaccharidosis I ; Parents ; Pediatrics ; Thyroid Function Tests

We experienced one case of severe pituitary dwarfism in a 16 years old male boy that magnetic resonance image(MRI) revealed transection of the pituitary stalk with the ectopic location of posterior pituitary gland and hypoplastic anterior pituitary gland. The serum growth horrnone(GH) response to clonidine and L-dopa revealed severe GH deficiency. The patient revealed normal response in TSH, prolactin and LH, FSH to TRH and LHRH respectively. So far, the primary cause of idiopathic pituitary dwarfism in many patients was due to hypoxic injury to hypothalmus by perinatal insults. In this patients, there was no history of perinatal insults and postnatal head trauma. We report a case of severe dwarfism due to hypogenesis of anterior pituitary gland.
Clonidine ; Craniocerebral Trauma ; Dwarfism ; Dwarfism, Pituitary ; Gonadotropin-Releasing Hormone ; Humans ; Levodopa ; Male ; Pituitary Gland ; Pituitary Gland, Anterior ; Pituitary Gland, Posterior ; Prolactin

Recombinant human growth hormone is generally safe in treating children with growth hormone deficiency and idiopathic short stature. However, side effects such as sodium and water retention, benign intracranial hypertension, insulin insensitivity, increasing risk of secondary neoplasm, scoliosis, and slipped capital femoral epiphysis may occur occasionally, although the overall incidence remains low.
Dwarfism ; drug therapy ; Dwarfism, Pituitary ; drug therapy ; Human Growth Hormone ; adverse effects ; deficiency ; therapeutic use ; Humans ; Recombinant Proteins ; adverse effects ; therapeutic use

OBJECTIVETo elucidate the curative and adverse effect of recombinant human growth hormone (rhGH) in 2 patients with isolated-growth hormone deficiency type IA (IGHDIA), to track sexual development and pregnancy, and reassess the quality of life in the adulthood.

METHODThe authors summarized the data of 2-sister cases with IGHDIA; followed up for assessment of height, weight, blood pressure and sexual development; detected fasting blood lipids, glucose, insulin, insulin growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3); made an investigation of education and occupation, and so on.

RESULTAfter 6.2 and 7.3 years treatment with rhGH, the two sisters had considerably improved height from -7.8 SDS, -8.8 SDS to -2.6 SDS and -1.3 SDS respectively. No evident side effect was observed. They had normal sexual development and pregnancy. The levels of IGF-1 and IGFBP-3 were still low, in the elder sister they were 46.6 µg/L, 2460 µg/L, and in the younger 52.4 µg/L, 2430 µg/L. No hyperlipidemia, diabetes or obesity occurred.

CONCLUSIONLong term therapy with rhGH may improve final adult height of individuals with IGHDIA. They can have normal sexual development and pregnancy. Metabolic syndrome did not occur during the follow-up period.

Child ; Dwarfism, Pituitary ; classification ; therapy ; Female ; Follow-Up Studies ; Human Growth Hormone ; therapeutic use ; Humans ; Siblings

OBJECTIVE: To study the etiology and genetic diagnosis of children with short stature. METHODS: A retrospective analysis was performed to study the etiological distribution and clinical features of 86 children with short stature. RESULTS: A total of 6 causes were observed in these children, among which idiopathic short stature (ISS, 41%) and growth hormone deficiency (GHD, 29%) were the most common causes, followed by genetic diseases (14%). There were no significant differences in age at the time of diagnosis, body height, body length and weight at birth, body height of parents and insulin-like growth factor-1 levels between the genetic disease group and the ISS/GHD groups (P>0.05). Compared with the ISS group, the genetic disease group had significantly lower deviation from the 3rd percentile for the height of children of the same age and sex (ΔP3) and height standard deviation score (P<0.05), while there were no significant differences between the genetic disease and GHD groups (P>0.05). The analysis of the clinical manifestations for the genetic disease group showed heterogeneity and phenotypic overlap in children with different genetic diseases. CONCLUSIONS ISS, GHD and genetic diseases are major causes of short stature in children. For children with severe short stature, genetic testing should be performed to make a definitive diagnosis after GHD has been excluded.
Body Height ; Child ; Dwarfism, Pituitary ; Genetic Testing ; Growth Disorders ; Human Growth Hormone ; Humans ; Retrospective Studies

Cockayne syndrome is a rare autosomal recessive disorder characterized by cachectic dwarfism, mental retardation, loss of facial subcutaneous adipose tissue, microcephaly and photosensitive dermatitis. It is associated with renal abnormalities characterized by hyalinization of glomeruli, atrophy of tubules and interstitial fibrosis. To our knowledge, this is the first report of a case of Cockayne syndrome with FSGS in Korea. A 7-year old boy was admitted for evaluation of hypertension and proteinuria, which were detected 2 month ago. He was followed for short stature(<3 percentile), mental retardation(IQ 55), strabismus and dental caries since 3 years ago. He also showed microcephaly, a bird-like face and relatively large hands and feet. Laboratory findings showed decreased creatinine clearance(CCr 76.1 mL/min/1.73m2) and proteinuria(1,548 mg/day). Renal biopsy demonstrated focal segmental glomerulosclerosis of the hilar type with large hyaline deposits, moderate tubular atrophy and interstitial fibrosis. His cardinal features, mental retardation, and renal biopsy findings were consistent with Cockayne syndrome. We report here a very rare case of Cockayne syndrome with FSGS presenting with proteinuria and hypertension.
Atrophy ; Biopsy ; Child ; Cockayne Syndrome* ; Creatinine ; Dental Caries ; Dermatitis ; Dwarfism ; Fibrosis ; Foot ; Glomerulosclerosis, Focal Segmental* ; Hand ; Humans ; Hyalin ; Hypertension ; Intellectual Disability ; Korea ; Male ; Microcephaly ; Proteinuria ; Strabismus ; Subcutaneous Fat