Table 2 Medical History Timeline
Year | Clinical findings | Diagnosis |
|---|---|---|
2011- | Bilateral glaucoma was found; Sholl solution and anti-acidosis capsule was prescribed | |
2015 | Physical Examination: Weight and height, below the 3rd percentile; Mental retardation. Other physical examinations, neurological signs: unremarkable. Serum: Na, 139 mEq/L; K, 3.1 mEq/L; Cl, 110 mEq/L; blood urea nitrogen, 12 mg/dL; creatinine, 0.9 mg/dL, pH, 7.22; HCO3−, 11 mmol/L; PCO2, 29 mmHg. Free T4, TSH, IGF-I, IGFBP3; normal. Urinalysis: pH, 5.0; no protein; no glucose. Urinary excretion of amino acids, normal; β2-microglobulin, 110 μg/L (normal: < 240 μg/L). Renal ultrasound, a 9-mm diameter parenchymal stone in the right kidney. Brain MR imaging, no intracranial calcification. | Diagnosed as proximal renal tubular acidosis Identification of slc4a4 mutation |
2017 | Weight, 21 kg (<3rd percentile); height, 116 cm (<3rd percentile). Physical examination: micrognathia, “fish-mouth” appearance, dental abnormalities, epicantal folds, ptosis, low-set ears, short neck with low hairline, broad shield-like chest, wide-spaced nipples, hypoplastic areolaes, cubitus valgus, short fourth metacarpals. Hormonal investigations: FSH, 69.3 IU/L (normal: 4.5–20.0 mIU/L); LH, 15.9 IU/L (normal: 3.5–14.0 mIU/L) and estradiol, < 5.0 pg/mL. Karyotype, 45. Obstetric ultrasound; uterine and gonadal hypoplasia. | Diagnosed as Turner’s syndrome |