一、病例资料 例1,男,7个月,体重4000g。因喂养困难、呕吐、腹泻6个月入院。足月顺产。出生体重为3 500g。出生时全身皮肤明显色素沉着,生后出现进食困难,出生第20天不明原因腹泻、频繁呕吐。院外治疗无好转,生长发育迟缓。家族史:有1姐,女性假两性畸形,生后第2天不明原因死亡。体检:体温36.5℃,消瘦,营养不良貌,心肺腹无异常。男性外阴,色素沉着明显,阴茎大。入院后心脏、双肾、输尿管、膀胱B超,全消化道钡餐透视均未发现异常。心电图示窦性心动过速。颅脑CT示脑发育不良症。查T3、T4、TSH均在正常范围。血生化:钾 7.4 mmol/L,钠111 mmol/L,氯 93 mmol/L,二氧化碳结合力6.4 mmol/L,入院诊断为肾小管酸中毒。后查血浆皮质醇0.25 mg/L,参考值0.30±0.03mg/L,醛固酮39.9ng/L,参考值45.6～136.8nd/L,血管紧张素Ⅱ　238.7 Pg/ml,参考值55.3～115.3 Pg/ml,双肾CT示双肾上腺皮 First, case data example 1, male, 7 months, weight 4000g. Due to feeding difficulties, vomiting, diarrhea admitted to hospital for 6 months. Full-term follow-up. Birth weight of 3 500g. Pigmentation of the body at birth was significantly skinned, eating difficulties after birth, birth 20 days of unknown causes of diarrhea, frequent vomiting. Out-of-hospital treatment did not improve, growth retardation. Family history: There is a sister, female false bisexual deformity, unknown cause of death after 2 days of life. Physical examination: body temperature 36.5 ℃, weight loss, malnutrition, no abnormal heart and lung abdomen. Male vulva, pigmentation obvious, large penis. After admission, heart, kidneys, ureter, bladder B ultrasound, digestive tract barium meal were found no abnormalities. Electrocardiogram shows sinus tachycardia. Brain CT showed cerebral hypoplasia. Check T3, T4, TSH are in the normal range. Blood biochemistry: Potassium 7.4 mmol / L, sodium 111 mmol / L, chlorine 93 mmol / L, carbon dioxide binding 6.4 mmol / L, admission was diagnosed as renal tubular acidosis. Plasma cortisol 0.25 mg / L, reference value 0.30 ± 0.03 mg / L, aldosterone 39.9 ng / L, reference value 45.6 ~ 136.8nd / L, angiotensin Ⅱ 238.7 Pg / ml, reference value 55.3 ~ 115.3 Pg / ml, double renal CT showed adrenal