Braslavsky Débora, Keselman Ana, Galoppo Marcela, Lezama Carol, Chiesa Ana, Galoppo Cristina, Bergadá Ignacio
División de Endocrinología, Centro de Investigaciones Endocrinológicas, Buenos Aires, Argentina.
Arq Bras Endocrinol Metabol. 2011 Nov;55(8):622-7. doi: 10.1590/s0004-27302011000800017.
Neonatal cholestasis due to endocrine diseases is infrequent and poorly recognized. Referral to the pediatric endocrinologist is delayed.
We characterized cholestasis in infants with congenital pituitary hormone deficiencies (CPHD), and its resolution after hormone replacement therapy (HRT).
Sixteen patients (12 males) were included; eleven with CPHD, and five with isolated central hypocortisolism.
Onset of cholestasis occurred at a median age of 18 days of life (range 2-120). Ten and nine patients had elevated transaminases and γGT, respectively. Referral to the endocrinologist occurred at 32 days (range 1 - 72). Remission of cholestasis occurred at a median age of 65 days, whereas liver enzymes occurred at 90 days. In our cohort isolated, hypocortisolism was a transient disorder.
Cholestasis due to hormonal deficiencies completely resolved upon introduction of HRT. Isolated hypocortisolism may be a transient cause of cholestasis that needs to be re-evaluated after remission of cholestasis.
内分泌疾病导致的新生儿胆汁淤积并不常见，且认识不足。转诊至儿科内分泌科的时间延迟。
我们对先天性垂体激素缺乏症（CPHD）婴儿的胆汁淤积及其激素替代治疗（HRT）后的缓解情况进行了特征描述。
纳入16例患者（12例男性）；11例患有CPHD，5例患有孤立性中枢性皮质醇缺乏症。
胆汁淤积发病的中位年龄为18天（范围2 - 120天）。分别有10例和9例患者转氨酶和γ-谷氨酰转移酶（γGT）升高。转诊至内分泌科的时间为32天（范围1 - 72天）。胆汁淤积缓解的中位年龄为65天，而肝酶恢复正常的中位年龄为90天。在我们的队列中，孤立性皮质醇缺乏症是一种短暂性疾病。
激素缺乏导致的胆汁淤积在开始HRT后完全缓解。孤立性皮质醇缺乏症可能是胆汁淤积的一个短暂原因，在胆汁淤积缓解后需要重新评估。
