Table 1
Suspected diagnosis | Suggested tests |
---|---|
Precocious puberty | Serum FSH, LH, estradiol, testosterone, DHEA, DHEAS, androstenedione,17α-hydroxyprogesterone, human chorionic gonadotropin; gonadotropin response to gonadotropin-releasing hormone; MRI of the sella |
Ovarian or adrenal tumor | Serum estradiol, testosterone, DHEAS, androstenedione; abdominal ultrasonography or CT |
Congenital adrenal hyperplasia | Serum electrolytes; serum testosterone, DHEAS, androstenedione, testosterone, 17α-hydroxyprogesterone, 11-deoxycortisol; ACTH |
Pituitary growth hormone excess | Serum IGF-1-3; GH suppression test; MRI of the sella |
Sotos syndrome | Skull radiography, cranial CT, or MRI; electroencephalography; renal ultrasonography; echocardiography |
Hyperthyroidism | Serum free thyroxine, triiodothyronine, and thyroid-stimulating hormone |
Homocystinuria | Plasma cystine, homocysteine, and methionine; urinary homocysteine |
Beckwith-Wiedemann syndrome | Serum glucose, insulin; renal ultrasonography; echocardiography; tumor surveillance justified |
Marfan syndrome | Spine radiography; echocardiography |
Simpson-Golabi-Behmel syndrome | Spine radiography; renal ultrasound; echocardiography; tumor surveillance justified |
Klinefelter syndrome | Serum FSH, LH, testosterone; karyotype; tumor surveillance justified |
Hypogonadal syndromes | Serum FSH, LH, estradiol, or testosterone; tumor surveillance justified |
Familial glucocorticoid deficiency | Serum cortisol, ACTH |
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