The Swyer syndrome or pure XY gonadal dysgenesis is a disorder of the sex chromosomes and sexual differentiation, characterized by a phenotypically female individual with primary amenorrhea and lack of secondary sexual characteristics. The report of two cases diagnosed in the Department of Genetics at the National Hospital Edgardo Rebagliati Martins, aims to review recent reports of this rare disease diagnoses and treatment parameters that can prevent complications described.

The Swyer syndrome or pure XY gonadal dysgenesis is a disorder of the sex chromosomes and sexual differentiation, characterized by a phenotypically female individual with primary amenorrhea and lack of secondary sexual characteristics. The report of two cases diagnosed in the Department of Genetics at the National Hospital Edgardo Rebagliati Martins, aims to review recent reports of this rare disease diagnoses and treatment parameters that can prevent complications described.

The Swyer syndrome or pure XY gonadal dysgenesis is a disorder of the sex chromosomes and sexual differentiation, characterized by a phenotypically female individual with primary amenorrhea and lack of secondary sexual characteristics. The report of two cases diagnosed in the Department of Genetics at the National Hospital Edgardo Rebagliati Martins, aims to review recent reports of this rare disease diagnoses and treatment parameters that can prevent complications described.

La mucopolisacaridosis de tipo I (MPS I), es una enfermedad genética autosómica recesiva de origen lisosomal, caracterizada por la deficiencia de la enzima α-L-iduronidasa. La deficiencia en el catabolismo de los glucosaminoglucanos resulta en su acumulación en diferentes tejidos y órganos. La incidencia global de la MPS I es de 0,99-1,99/100 000 nacidos vivos. Existen tres presentaciones clínicas: Hurler (grave), Hurler-Scheie (moderada) y Scheie (leve). Presentamos el caso de un niño de 10 años de edad a quien se le diagnosticó MPS I, de variedad grave en el año 2006, mediante medición de la actividad enzimática de α-L-iduronidasa en leucocitos. Este caso es el único con diagnóstico confirmado y tratamiento enzimático hasta el momento, en el Perú. Presenta infecciones respiratorias recurrentes, hernia umbilical, opacidad corneal, rasgos toscos, macroglosia, hipoacusia,...

Estudio para determinar la frecuencia de las diez mutaciones más comúnmente reportadas en América Latina del gen CFTR mediante Sistema de Mutación Refractario a la amplificación por PCR (ARMS-PCR) en los pacientes con fibrosis quística (FQ) del Hospital Nacional Edgardo Rebagliati Martins y el Instituto Nacional de Salud del Niño, en Lima, Perú, durante el año 2014.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, significantly affecting endothelium homeostasis. We analyzed the ENG gene in five members of a Peruvian family affected by HHT. One novel mutation was found in exon four of the ENG gene c.408delA, at aminoacid residue 136. This mutation changes the subsequent reading frame producing an early stop at residue 162, preserving only one fourth of the normal protein of 658 aa. This mutation was found in the four affected members of family.