Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare in two patients with molecularly confirmed ...

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 ...

We report two patients with velo-cardio-facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and se...

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...

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...

CONTEXT Recombinant human (rh) IGF-I is now available to treat children with short stature resulting from severe primary IGF-I deficiency. This review from the Drug and Therapeutics Committee of the Lawson Wilkins Pediatric Endocrine Society discusses different aspects of rhIGF-I therapy, particularly with regard to potential advantages and disadvantages in comparison with the traditional use o...

Background: Fanconi anemia (FA) is a rare, autosomal recessive (AR) and multifactorial disorder. A high prevalence of FA observed in Iran is perhaps due to the high rate of consanguineous marriages. This study investigates the extent of short stature in patients with FA, the frequency of hypothyroidism in FA and the correlation between height and hypothyroidism. Methods: Eighteen patients with ...