Información del artículo
La hiperplasia suprarrenal congénita incluye los trastornos hereditarios de la síntesis suprarrenal del cortisol. Se conoce 5 formas clínicas, el déficit de 21 hidroxilasa es la forma más frecuente. El déficit de 21 hidroxilasa se puede categorizar clínicamente en formas clásicas (pérdida salina y virilizante simple) y formas no clásicas (sintomáticas y asintomáticas/crípticas). El presente trabajo revisa los aspectos diagnósticos y terapéuticos de la hiperplasia suprarrenal congénita, con especial referencia al déficit de 21 hidroxilasa y su evolución a largo plazo. Durante los últimos 30 años se han producido avances importantes, tanto diagnósticos como terapéuticos, que han permitido disminuir notablemente la morbimortalidad y posibilitar que los pacientes alcancen la edad adulta. El tratamiento persigue disminuir la secreción de corticotropina (ACTH) y el hiperandrogenismo suprarrenal subyacente, y reemplazar lo más fisiológicamente posible el déficit de glucocorticoides y mineralocorticoides. El tratamiento clínico con frecuencia se ve complicado por fases de hiperandrogenismo inadecuadamente controlado y/o hipercortisolismo iatrogénico. En la evolución a largo plazo, estos pacientes pueden presentar una serie de complicaciones entre las que se incluyen baja talla, obesidad, disminución de la densidad mineral ósea, disfunción gonadal, infertilidad y disfunción psicosexual en las mujeres. En la actualidad existen nuevas pautas terapéuticas en fase de investigación entre las que se incluyen el uso de antiandrógenos, inhibidores de la síntesis de estrógenos y la adrenalectomía.
Palabras clave:
Hiperplasia suprarrenal congénita
Déficit de 21 hidroxilasa
CYP21
Congenital adrenal hyperplasia is a term that includes all hereditary disorders of adrenal cortisol synthesis. There are 5 clinical forms, of which 21 hydroxylase deficiency is the most frequent. This deficiency can be clinically classified into classical forms (salt-losing and simple-virilizing) and nonclassical forms (symptomatic and asymptomatic/cryptic). The present article reviews the diagnostic and therapeutic features of congenital adrenal hyperplasia with special emphasis on 21-hydroxylase deficiency and its long-term outcome. In the last 30 years, significant advances have been achieved both in diagnosis and treatment, which have notably decreased morbidity and mortality and have enabled patients to reach adulthood. Treatment aims to decrease adrenocorticotropic hormone secretion and underlying adrenal hyperandrogenism and to correct the glucocorticoid and mineralocorticoid deficiency as physiologically as possible. Clinical management is frequently complicated by poorly controlled hyperandrogenism and/or iatrogenic hypercortisolism. Over the long-term course of the disease, these patients can develop a series of complications that include short stature, obesity, reduced bone mineral density, gonadal dysfunction, infertility and psychosexual dysfunction in women. New therapeutic options are currently under investigation, including the use of antiandrogens, estrogen synthesis inhibitors, and adrenalectomy.
Key words:
Congenital adrenal hyperplasia
21-hydroxylase deficiency
CYP21
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