ABSTRACT
Steroid 11beta-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia. 11beta-hydroxylase intervenes in cortisol synthesis and its deficiency leads to accumulation of adrenal androgens--producing prenatal virilization and, subsequently, hyperandrogenism--as well as 11-deoxycorticosterone, leading to the development of hypertension. We describe a 7-year-old girl who was referred for pubarche and accelerated skeletal maturation due to 11beta-hydroxylase deficiency. Because the patient's predicted height was below her target height, the combination of gonadotropin-releasing hormone analog and growth hormone was added to oral glucocorticoid therapy. With this therapeutic strategy, the patient's predicted height improved significantly and the girl reached a final height in agreement with her target height at the age of 13 years and 6 months.
Subject(s)
Adrenal Hyperplasia, Congenital/drug therapy , Glucocorticoids/therapeutic use , Gonadotropin-Releasing Hormone/analogs & derivatives , Gonadotropin-Releasing Hormone/therapeutic use , Growth Hormone/therapeutic use , Steroid 11-beta-Hydroxylase , Administration, Oral , Adrenal Hyperplasia, Congenital/diagnosis , Age Factors , Body Height , Child , Drug Therapy, Combination , Female , Follow-Up Studies , Glucocorticoids/administration & dosage , Gonadotropin-Releasing Hormone/administration & dosage , Growth Hormone/administration & dosage , Humans , Prognosis , Steroid 11-beta-Hydroxylase/metabolism , Time Factors , Treatment OutcomeABSTRACT
El déficit de 11Beta-hidroxilasa es la segunda causa más frecuente de hiperplasia suprarrenal congénita. La 11Beta-hidroxilasa interviene en la síntesis de cortisol y su déficit conlleva acumulación de andrógenos, produciendo virilización prenatal e hiperandrogenismo posterior, y 11-desoxicorticosterona, causante de hipertensión arterial. Se presenta una paciente de 7 años remitida por pubarquia y maduración ósea acelerada, debidas a déficit de 11Beta-hidroxilasa. Debido a que su pronóstico de talla final era muy inferior a su talla genética, se asoció la combinación de análogos de la hormona liberadora de hormona luteinizante (LHRH) y hormona de crecimiento al tratamiento con corticoides orales. Con dicha combinación terapéutica, su pronóstico de talla final mejoró significativamente, alcanzando a los 13 años y 6 meses una talla acorde a su talla
Steroid 11Beta-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia. 11Beta-hydroxylase intervenes in cortisol synthesis and its deficiency leads to accumulation of adrenal androgens producing prenatal virilization and, subsequently, hyperandrogenism as well as 11-deoxycorticosterone, leading to the development of hypertension. We describe a 7-year-old girl who was referred for pubarche and accelerated skeletal maturation due to 11Beta-hydroxylase deficiency. Because the patient's predicted height was below her target height, the combination of gonadotropin-releasing hormone analog and growth hormone was added to oral glucocorticoid therapy. With this therapeutic strategy, the patient's predicted height improved significantly and the girl reached a final height in agreement with her target height at the age of 13 years and 6 months
