RESUMEN
OBJECTIVE: To develop a reliable and accurate preimplantation genetic diagnosis (PGD) method in six families with endocrine diseases: persistent hyperinsulinemic hypoglycemia of infancy (PHHI), congenital adrenal hyperplasia (CAH) salt-wasting form, Sanjat-Sakati syndrome and multiple endocrine neoplasia 2A (MEN 2A). METHODS: For each disease a battery of at least four informative markers surrounding the tested gene were identified and for each family a protocol of multiplex fluorescent markers was developed and performed on single cells. RESULTS: PGD for PHHI was performed in three families. In family 1 two healthy children were born from different cycles, in family 2 three healthy children were born from two cycles, and in family 3 a healthy boy was born. For CAH in one family a healthy girl was born. One PGD cycle for Sanjat-Sakati resulted in a clinical pregnancy that was terminated due to high nuccal translucency (46X0). For one family with MEN 2A disease, the eighth PGD cycle resulted in birth of healthy twins. In all children genetic confirmation of the healthy status was performed. CONCLUSIONS: PGD is an effective method for preventing birth of affected children with endocrine disorders. Increasing the awareness of clinicians to the availability of these methods is most important.
Asunto(s)
Enfermedades del Desarrollo Óseo/genética , Enfermedades del Desarrollo Óseo/prevención & control , Enfermedades del Sistema Endocrino/genética , Enfermedades del Sistema Endocrino/prevención & control , Enfermedades Pancreáticas/genética , Enfermedades Pancreáticas/prevención & control , Diagnóstico Preimplantación/métodos , Anomalías Múltiples/genética , Anomalías Múltiples/prevención & control , Hiperplasia Suprarrenal Congénita/genética , Hiperplasia Suprarrenal Congénita/prevención & control , Adulto , Enfermedades del Desarrollo Óseo/congénito , Hiperinsulinismo Congénito , Transferencia de Embrión , Enfermedades del Sistema Endocrino/congénito , Salud de la Familia , Femenino , Marcadores Genéticos , Trastornos del Crecimiento/congénito , Trastornos del Crecimiento/genética , Trastornos del Crecimiento/prevención & control , Humanos , Hipoparatiroidismo/congénito , Hipoparatiroidismo/genética , Hipoparatiroidismo/prevención & control , Discapacidad Intelectual/genética , Discapacidad Intelectual/prevención & control , Israel , Masculino , Neoplasia Endocrina Múltiple Tipo 2a/congénito , Neoplasia Endocrina Múltiple Tipo 2a/genética , Neoplasia Endocrina Múltiple Tipo 2a/prevención & control , Nesidioblastosis/congénito , Nesidioblastosis/genética , Nesidioblastosis/prevención & control , Osteocondrodisplasias/congénito , Osteocondrodisplasias/genética , Osteocondrodisplasias/prevención & control , Enfermedades Pancreáticas/congénito , Embarazo , Resultado del Embarazo , Convulsiones/congénito , Convulsiones/genética , Convulsiones/prevención & controlRESUMEN
BACKGROUND: Primary malignant melanoma of the vagina is extremely rare, accounting for 0.3-0.8% of all malignant melanomas. True amelanotic vaginal melanoma showing no melanin on histological examination is exceedingly rare, accounting for only 2% of all vaginal melanomas. CASE REPORT: We describe a 31-year-old female patient who presented with locally advanced amelanotic melanoma of the vagina, with no evidence of metastatic spread on the computerized tomography (CT) scan, but who was subsequently diagnosed as suffering from metastatic disease by positron emission tomography (PET)-CT performed a few weeks following posterior pelvic exenteration. CONCLUSION: Specific immunohistochemical staining with melanoma markers should be performed to confirm or exclude a diagnosis of amelanotic melanoma in all patients presenting with a vaginal mass composed of undifferentiated epithelioid malignant cells. Fluorodeoxyglucose (FDG)-PET-CT should be performed as part of the preoperative evaluation, to identify the presence or absence of metastatic disease in all patients with vaginal melanoma.