RESUMEN
Kallmann's syndrome is a rare genetic disorder due to abnormal migration of olfactory axons and gonadotropin releasing hormone producing neurons, characterized by hypogonadism and anosmia. The prevalence of Kallmann's syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. The inheritance of Kallmann's syndrome may be X-linked, autosomal recessive or autosomal dominant with variable penetrance, mutation involving KAL-1 and KAL-2 gene respectively. We report a case of Kallmann's syndrome in a 19-year-old boy with characteristic clinical, biochemical and MRI findings.
Asunto(s)
Adulto , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Estudios de Seguimiento , Humanos , Síndrome de Kallmann/diagnóstico , Masculino , Índice de Severidad de la Enfermedad , Testosterona/uso terapéuticoRESUMEN
A hospital based study of skeletal dysplasias was conducted over a period of 2 years in Davangere, Karnataka, in which 169 cases of skeletal dysplasias were studied. One hundred were osteochondrodysplasias and were grouped according to international classification of osteochondrodysplasias. Among the individual cases, osteogenesis imperfecta (13 cases) had the maximum representation. Several cases of rare disorders were also identified. Eighty eight cases of skeletal dysplasias were in the pediatric age group and of these 41 were newborns. The incidence of skeletal dysplasia among newborns was 19.6 per 10,000 deliveries and lethal dysplasias 5.2 per 10,000 deliveries. In 7 cases of skeletal dysplasia, an antenatal diagnosis was possible by ultrasonography.