RESUMEN
OBJECTIVES: Pseudohypoparathyroidism type 1A (PHP1A) encompasses the association of resistance to multiple hormones, features of Albright hereditary osteodystrophy and decreased Gsα activity. Little is known about the early signs of PHP1A, with a delay in diagnosis. We report two PHP1A cases and their clinical and biochemical findings during a 20-year follow-up. CASE PRESENTATION: Clinical suspicion was based on obesity, TSH resistance and ectopic ossifications which appeared several months before PTH resistance, at almost 3â¯years of age. Treatment with levothyroxine, calcitriol and calcium was required in both patients. DNA sequencing of GNAS gene detected a heterozygous pathogenic variant within exon 7 (c.569_570delAT) in patient one and a deletion from XLAS to GNAS-exon 5 on the maternal allele in patient 2. In patient 1, ectopic ossifications that required surgical excision were found. Noticeably, patient 2 displayed adult short stature, intracranial calcifications and psychomotor delay. In terms of weight, despite early diagnosis of obesity, dietary measures were established successfully in both cases. CONCLUSIONS: GNAS mutations should be considered in patients with obesity, ectopic ossifications and TSH resistance presented in early infancy. These cases emphasize the highly heterogeneous clinical picture PHP1A patients may present, especially in terms of final height and cognitive impairment.
Asunto(s)
Subunidades alfa de la Proteína de Unión al GTP Gs , Seudohipoparatiroidismo , Adulto , Humanos , Subunidades alfa de la Proteína de Unión al GTP Gs/genética , Seudohipoparatiroidismo/diagnóstico , Seudohipoparatiroidismo/genética , Mutación , Obesidad , Tirotropina , Cromograninas/genéticaRESUMEN
Introducción: el raquitismo es un problema de salud a nivel global. La deficiencia de vitamina D se ha convertido en una pandemia, su interés ha aumentado por la implicación de la misma en múltiples acciones extraesqueléticas. Material y métodos: se realizó una encuesta a través de correo electrónico entre pediatras españoles para estudiar su actitud en relación con la suplementación profiláctica de vitamina D. Resultados: un 83% de los pediatras tienen políticas de profilaxis de vitamina D en su área. Un 61,6% inicia la profilaxis en las dos primeras semanas y un 81,5% la mantiene el primer año. Un 57,2% realiza una búsqueda de deficiencia de vitamina D, sobre todo si trabajan en medio hospitalario. Conclusiones: las políticas de profilaxis con vitamina D son bastantes uniformes. Más de la mitad de los pediatras españoles realizan una búsqueda sistemática mediante analítica de deficiencia de vitamina D en sus pacientes con factores de riesgo durante la infancia y adolescencia (AU)
Introduction: rickets is a global health problem. Vitamin D deficiency has become a pandemic, its interest has increased due to its implication in multiple extraskeletal actions.Material and methods: a survey was conducted by e-mail among spanish paediatricians to study their attitude regarding prophylactic vitamin D supplementation.Results: 83% of pediatricians have vitamin D prophylaxis policies in their area. 61.6% start prophylaxis in the first two weeks, 81.5% maintain it the first year. 57.2% search for vitamin D deficiency, especially if they work in a hospital.Conclusions: vitamin D prophylaxis policies are uniform. More than a half of Spanish pediatricians conduct a systematic search for vitamin D deficiency in their patients with risk factors during childhood and adolescence (AU)
