RESUMO
We report a case of transient pseudohypoparathyroidism in a full-term newborn that presented at 20 hours of life with hypocalcemic seizures, hyperphosphatemia and raised parathormone levels. The diagnosis of pseudohypoparathyroidism was made according to biochemical investigations. The infant was treated with calcium supplementation and vitamin D analog therapy, and he remained stable and symptom-free with normal serum biochemistries during follow-up. We suggest that transient pseudohypoparathyroidism of the newborn (ntPHP) might be included among inactivating parathyroid hormone (PTH)/PTH-related protein signaling disorders as defined by the classification schema recently proposed by the European Pseudohypoparathyroidism Network. To the best of our knowledge, this is the first report in which the new classification has been applied to a case of ntPHP.
RESUMO
Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. APS-1 is classically characterized by a triad of chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenocortical insufficiency. We report a 5-yr-old female who presented with symptoms of tetany due to hypocalcemia and was subsequently found to be secondary to hypoparathyroidism. Rapid trio whole-genome sequencing revealed compound heterozygous variants in AIRE in the proband, with a paternally inherited, pathogenic, frameshift variant (c.1265delC; p.Pro422LeufsTer58) and a novel, likely pathogenic, maternally inherited missense variant (c.268T>C; p.Tyr90His).
Assuntos
Mutação , Fenótipo , Poliendocrinopatias Autoimunes/diagnóstico , Poliendocrinopatias Autoimunes/genética , Fatores de Transcrição/genética , Sequenciamento Completo do Genoma , Alelos , Pré-Escolar , Mapeamento Cromossômico , Feminino , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Proteína AIRERESUMO
A one-year prospective study on developmentally normal children between 1-mo to 2-y with seizures was done to study the prevalence of hypocalcemia. The contribution of hypovitaminosis-D to hypocalcemia was also studied. Of 78 infants (51 boys) enrolled, 18 (23.1%) had hypocalcemia. Fifteen (19.2%) had hypocalcemia secondary to hypovitaminosis-D and 3 (3.8%) had hypomagnesemia. In infants aged less than 6 mo who were exclusively breastfed, 15 (41.67%) had hypocalcemia in comparison to other two age groups [2 (10.53%) in 6-12 mo age-group and 1 (4.35%) in 1-2 y age-group]. This association was statistically significant (p = 0.001).