RESUMO
TITLE: Síndrome de Joubert y neurofibromatosis de tipo 1.
Assuntos
Anormalidades Múltiplas , Anormalidades do Olho , Doenças Renais Císticas , Neurofibromatose 1 , Cerebelo/anormalidades , Anormalidades do Olho/diagnóstico , Feminino , Humanos , Doenças Renais Císticas/complicações , Doenças Renais Císticas/diagnóstico , Masculino , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Retina/anormalidadesRESUMO
La enzima P450c17 cataliza 2 reacciones diferentes: 17alfa-hidroxilación de la progesterona y pregnenolona y segmentación de la unión del carbono 17-20 a partir de la 17,20 liasa para producir andrógenos suprarrenales. Esta enzima está codificada por el gen CYP17A1. Se presenta una paciente de 14 años con retraso en el desarrollo puberal y presión arterial elevada para su talla y edad. Cariotipo 46,XX. En el estudio hormonal destaca hipogonadismo hipergonadotropo, así como una insuficiencia suprarrenal y exceso mineralocorticoideo. El estudio genético mostró una mutación en homozigosis en el gen CYP17A1 (c.753+1G>A), no descrita previamente, la cual es responsable de la fisiopatología de la deficiencia de 17alfa-hidroxilasa. Esta entidad es una forma rara de hiperplasia suprarrenal congénita. Normalmente la enfermedad suele pasar desapercibida hasta la adolescencia o el inicio de la vida adulta y se debería sospechar ante individuos 46,XY con genitales ambiguos o 46,XX con retraso puberal que asocia hipertensión y/o hipopotasemia
P450c17 enzyme catalyses two different reactions: the 17Alpha-hydroxylation of progesterone and pregnenolone, and segmenting the carbon 17-20 binding from the 17,20 lyase producing adrenal androgens. This enzyme is coded by the CYP17A1 gene. The case is presented of a 14 year old patient with delayed pubertal development and a high blood pressure for height and age. 46,XX karyotype. Hormonal studies highlighted hypergonadotropic hypogonadism, adrenal insufficiency and mineralocorticoid excess. Subsequent genetic studies showed a homozygous mutation in the CYP17A1 gene (c.753+G>A), not previously described, which is responsible for the pathophysiology of 17Alpha-hydroxylase deficiency. This entity is a rare form of congenital adrenal hyperplasia. The disease often goes unnoticed until adolescence or early adult life, and should be suspected in 46,XY individuals with ambiguous genitalia or 46,XX with delayed puberty associated with hypertension and/or hypokalaemia
Assuntos
Humanos , Feminino , Criança , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Hipogonadismo/complicações , Hipogonadismo/diagnóstico , Hipopotassemia/congênito , Genitália/anormalidades , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/metabolismo , Hipogonadismo/congênito , Hipogonadismo/patologia , Hipopotassemia/complicações , Genitália/crescimento & desenvolvimentoRESUMO
P450c17 enzyme catalyses two different reactions: the 17α-hydroxylation of progesterone and pregnenolone, and segmenting the carbon 17-20 binding from the 17,20lyase producing adrenal androgens. This enzyme is coded by the CYP17A1 gene. The case is presented of a 14 year old patient with delayed pubertal development and a high blood pressure for height and age. 46,XX karyotype. Hormonal studies highlighted hypergonadotropic hypogonadism, adrenal insufficiency and mineralocorticoid excess. Subsequent genetic studies showed a homozygous mutation in the CYP17A1 gene (c.753+G>A), not previously described, which is responsible for the pathophysiology of 17α-hydroxylase deficiency. This entity is a rare form of congenital adrenal hyperplasia. The disease often goes unnoticed until adolescence or early adult life, and should be suspected in 46,XY individuals with ambiguous genitalia or 46,XX with delayed puberty associated with hypertension and/or hypokalaemia.
