Pouw I S, Drop S L, Ladée-Levy J V, Slijper F M
Tijdschr Kindergeneeskd. 1986 Jun;54(3):77-83.
We describe three patients in whom at the age of 4-7 yrs the diagnosis adrenogenital syndrome (21-hydroxylase deficiency) was made. There was no salt-loss. Two boys presented with precocious pubic hair development and increased growth velocity and bone maturation. The third patient was a severely virilized girl raised as a boy until she was 4 yrs old. Following an extensive psychiatric evaluation, it was decided to raise her as a girl and feminoplasty was performed. Clinical and biochemical evidence of central precocious puberty was present in one boy at the time of diagnosis at age 7 and developed under hydrocortisone substitution therapy in the two other patients. The precocious puberty was treated in two patients with the anti-androgen cyproterone acetate. In one boy suppression of pituitary gonadotropin secretion was obtained by LH-RH analogue (Buserelin) treatment.
我们描述了三名患者,他们在4至7岁时被诊断为肾上腺生殖器综合征(21-羟化酶缺乏症)。无失盐情况。两名男孩出现阴毛早熟发育、生长速度加快和骨骼成熟加速。第三名患者是一名严重男性化的女孩,直到4岁一直被当作男孩抚养。经过广泛的精神评估后,决定将她当作女孩抚养并进行了女性化整形手术。一名男孩在7岁诊断时存在中枢性性早熟的临床和生化证据,另外两名患者在氢化可的松替代治疗下出现了性早熟。两名患者用抗雄激素醋酸环丙孕酮治疗性早熟。一名男孩通过促性腺激素释放激素类似物(布舍瑞林)治疗抑制了垂体促性腺激素分泌。