The standardized scientific name for macroglossia is 21-hydroxylase deficiency, which may lead to a lack of glucocorticoids and saline corticosteroids, and effects such as masculinization of the vulva or other signs of masculinization. Depending on the severity of the disease, there are three types of 21-hydroxylase deficiency: salt-loss, simple masculinization, and late-onset, each with different effects and clinical manifestations. 1. Salt-loss type: The enzyme deficiency in these patients is so severe that they are born with masculinization of the vulva, which may be manifested as hypospadias. They may be born with hypospadias, and soon after birth, they may suffer from dehydration, weight loss, decreased blood sodium and increased blood potassium, and need to be rescued. 2. Simple masculinized type: the effects of vulvar masculinization and other signs of masculinization may appear. (1) vulvar masculinization: according to the different degrees of severity can be divided into five types: type I, clitoris is slightly larger, vagina and urethral opening is normal; type II, the clitoris increases in size, the vaginal opening becomes smaller, but the vagina and the urethral opening are still separate; type III, the clitoris is significantly enlarged, vagina and urethra openings in a common urogenital sinus; type IV manifestation of urethral hypospadias; type V, clitoris seems to be normal male. (2) other masculinized signs: such as short and stout, rough skin and more oil secretion, limbs have more hair, low voice, there are laryngeal knots and so on. Due to the interference of androgens, the patient has ovulation disorder, which is manifested as primary amenorrhea. In addition, due to the effect of androgens against estrogen, breasts often do not develop or breast dysplasia. 3. Late-onset (atypical): The clinical manifestations of late-onset are atypical. Patients have no abnormal manifestations before the initiation of puberty, and after the initiation of puberty, they develop hirsuteness, acne, obesity, scanty menstruation, secondary amenorrhea, and polycystic ovary, etc. In the case of 21-hydroxylase defects, patients may have a delay in ovulation. If 21-hydroxylase defects should be promptly seek medical attention and follow the doctor’s instructions for treatment.