Endocrine Abstracts

JOINT2574

Background: Hypoparathyroidism is a disorder in calcium homeostasis that is caused by inadequate secretion of parathyroid hormone, either due to an alteration in its synthesis, secretion or action. In children there may be different genetic etiologies. It can be classified as isolated or syndromatic hypoparathyroidism, within which we find Kenny Caffey syndrome. We describe a patient with a diagnosis of Kenny caffey type 2.

Case report: A two-month-old child was referred to the Pedro Elizalde hospital with a diagnosis of hypocalcemia secondary to hypoparathyroidism and suspicion of Degeorge syndrome. On physical examination, her phenotype was peculiar, finding elphoid fascies and hypoplasia of the facial mass, with micrognathia and microphthalmia, relative macrocephaly, large anterior fontanelle, severe short stature and a micropenis. Laboratory tests showed normocytic normochromic anemia, elevated transaminases, inhibited pH with hypocalcemia, hyperphosphatemia and increased vitamin D for the age range. His kidney function and other hormonal axes were normal. The echocardiogram showed an atrial septal defect and mild pulmonary stenosis. Whole body x-rays revealed tubular long bones and medullary space with stenosis. Fish was performed for 22q11.2 deletion and was normal. A clinical exome was performed without finding positive results, and ruling out Kenny Coffey type 1 and alterations in the CASR, PTH and GCMB. Kenny coffey type 2 is suspected, and exome expansion is requested and a variant of uncertain significance in heterozygosity was identified in the. FAM111A, c.913A>G p.(Arg305Gly). At this time, the genetic results of the parents are awaited.

Conclusions: Kenny Caffey syndrome type 2 is a heterogeneous disorder with multiple manifestations. Early diagnosis helps prevent comorbidities and provide better interdisciplinary follow-up.