Central African Pygmy populations are known to be the shortest human populations worldwide. Many evolutionary hypotheses have been proposed to explain this short stature: adaptation to food limitations, climate, forest density, or high mortality rates. However, such hypotheses are difficult to test given the lack of long-term surveys and demographic data. Whether the short stature observed nowa...

introduction hypothyroidism is the most common endocrine disorder in children and presented with various sign and symptoms; its diagnosis needs a high index of suspicion. case presentation we report 3 cases with unusual presentations of hypothyroidism and with delay in diagnosis that referred to pediatric endocrine outpatient clinic in mashhad university of medical sciences, mashhad, iran with ...

cartilage hair hypoplasia (chh), is a rare cause of metaphyseal chondrodysplasia and short stature. other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (hirschsprung disease, celiac, …) and increased risk of cancer. the disease is an autosomal recessive disorder and previously has not been reported in iran. we report a 9-year-old boy diagnosed as carti...

distal renal tubular acidosis is a syndrome of abnormal urine acidification and is characterized by hyperchloremic metabolic acidosis, hypokalemia, hypercalciurea, nephrocalcinosis and nephrolithiasis. despite the presence of persistent hypokalemia, acute muscular paralysis is rarely encountered in males.here, we will report an eighteen year old male patient who presented with flaccid quadripar...

Aggrecan, a proteoglycan, is an important component of cartilage extracellular matrix, including that of the growth plate. Heterozygous mutations in ACAN, the gene encoding aggrecan, cause autosomal dominant short stature, accelerated skeletal maturation, and joint disease. The inheritance pattern and the presence of bone age equal to or greater than chronological age have been consistent featu...

fanconi- bickel syndrome (fbs) is a rare type of glycogen storage disease (gsd) characterized by hepatomegaly, proximal renal tubular acidosis (rta) and marked growth retardation. we report a case of fbs presenting with diabetic ketoacidosis and transient neonatal diabetes. a female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated a...

background: iran is a vast country with great variability in ethnicity and geographical regions as well as higher diversity in socioeconomic and demographic factors in different provinces. all these differences could influence the growth indicators of children and may result in a substantial inequality in the distribution of growth indexes across iranian provinces. this study aimed to determine...

BACKGROUND Short stature affects approximately 2% of children, representing one of the more frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions of the short stature homeobox-containing gene (SHOX) are found quite frequently in subjects with short stature. Haploinsufficiency of the SHOX gene causes short statur...