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Iris coloboma as a typical characteristic of CHARGE syndrome. A woman with hypogonadotropic hypogonadism and CHARGE syndrome (CHD7 mutation c.4787A>G, p.Asp1596Gly) initially presented at the age of 16 years because of absent puberty. There was a history of choanal atresia, deafness, learning disorders, and anosmia. Tanner B1, P2. LH 0.2 U/L, FSH 0.54 U/L, estradiol 24 pg/mL. During GnRH stimulation test, LH 1.61 U/L, FSH 1.86 U/L.
