RESUMEN
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. The first laboratory workup showed elevated thyroid stimulating hormone and anti-tissue transglutaminase immunoglobulin A. The duodenal biopsies confirmed the diagnosis of coeliac disease. Treatment of levothyroxine was initiated with a gluten-free diet .6 years later, his re-evaluation showed a low insulin-like growth factor 1 and low growth hormone peaks confirming the diagnosis of growth hormone deficiency, Growth hormone therapy was initiated with an adjusted dose of levothyroxine. Conclusion: Other causes of short stature should not be missed when diagnosing chondrodysplasia, and further investigations should be carried out to detect other concomitant disorders since metaphyseal chondrodysplasia is a rare cause for short stature while hypothyroidism and coeliac disease are relatively common.
RESUMEN
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. Other than a lack of appetite, there was no past history of any gastrointestinal symptom. Her body mass index was low. The secondary sexual characteristics were at Stage 5 on Tanner score. On investigation, there was no abnormality concerning uterus and ovaries. Celiac disease antibody was highly positive, and the diagnosis of celiac disease was confirmed by small intestinal biopsies. A gluten-free diet was initiated. 4 months later, the patient reached her first menarche.Celiac disease should be considered among the differential diagnosis of Primary amenorrhea.Conclusion: healthcare providers should be aware of the extra gastrointestinal manifestations of Celiac disease. Serological testing for Celiac disease should be performed for any patient with primary amenorrhea.
RESUMEN
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. She was diagnosed with Allgrove syndrome after confirmation of adrenal insufficiency, Achalasia, and Alacrimia. Despite correcting these disorders, we did not notice an improvement in the patient's height, which promote us to further investigations, which eventually led to the diagnosis of growth hormone deficiency as a cause of short stature.The treatment consisted of Hydrocortisone, artificial tears, pneumatic balloon dilation, Nifedipine and Recombinant growth Hormone with a great improvement of her condition. Conclusion: This case found an unusual association between Allgrove syndrome and growth hormone deficiency, a treatable cause of short stature, which in turn is a frequent manifestation of unknown etiology in this syndrome.