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.

Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme α-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall incidence of MPS I is 0.99-1.99/100.000 live births. There are three clinical presentations: Hurler (severe), Hurler Scheie (mild) and Scheie (mild). We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme α-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth. After enzyme repla...

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.