Unlabelled: SCHMID metaphyseal chondrodysplasia is a rare cause of short stature with a good prognosis regarding other types of chondrodysplasia in reason of the normal integrity of the growth plate.
Case Presentation: The authors present a rare case of 4-year-2-month-old boy referred to our Unit for harmonious short stature, he had a waddling gait, subtle micromelia, and hyperlordosis, no special facies.
Clinical Discussion: The skeletal scan made the diagnosis of SCHMID metaphyseal chondrodysplasia.
Introduction: Primary amenorrhea is the absence of the first menarche. There are many causes for primary amenorrhea: gonadal dysgenesis, obstruction of the outflow tract, malformations of the hypothalamus, and the suppression of the hypothalamic pituitary gonadal axis.
Case Presentation: A 17-year and 6-month old girl was referred to our Endocrinology Clinic for the evaluation of primary amenorrhea, short stature and reduced general condition.
Introduction And Importance: Triple A (Allgrove) syndrome is an autosomal recessive multi-organ disease, caused by a mutated gene on chromosome 12q13 in most cases, characterized by the classic triad of Alacrimia, Achalasia and Adrenal insufficiency; along with neurologic abnormalities and many other manifestations in some cases.While short stature is not a rare manifestation in the context of this syndrome, it remains without identifiable cause.
Case Presentation: Here we described an 8-year-old female who had feeding difficulties, recurrent vomiting, hyperpigmentation and short stature.