Primary amenorrhea is characterized by the absence of menstruation after the age of 14 without the development of secondary sexual characteristics or after the age of 16 with the development of these. Hypogonadotropic hypogonadism (HH) corresponds to an uncommon etiology of primary amenorrhea. In HH, the differential diagnosis includes Kallmann Syndrome, isolated hypogonadotropic hypogonadism and CHARGE Syndrome. The CHARGE syndrome corresponds to an extremely rare syndrome, with an incidence of 0.1-1.2/10 000 characterized by the classic association of Coloboma, congenital Heart disease, choanal Atresia, Retardation in growth and/or development, Genital anomalies and anomalies from the Ear. It is an autosomal dominant disease, although most cases are sporadic due to de novo mutations. The exact pathophysiological mechanism of the disease is not known, but it seems to result from abnormalities of brain differentiation, namely in the migration of GnRH neurons. The CHD7 gene is the only known gene associated with CHARGE syndrome, being mutated in 75-95% of patients who meet clinical criteria for the typical form of the disease. We present the Clinical case of a patient with the diagnosis of CHARGE Syndrome since the 1st year of age, referred to an endocrinology consultation due to primary amenorrhea. Adolescent, 15 years old, CHARGE syndrome with bilateral coloboma, patent ductus arteriosus, undergoing heart surgery at age 2, profound sensorineural deafness, attention deficit disorder with autism spectrum disorder, chronic kidney disease and obesity. On physical examination Tanner stage 2 (breast 1, pubic hair 3, axillary hair 1), otherwise asymptomatic. Analytically with hypogonadotropic hypogonadism (FSH 0.4 mIU/ml, LH <0.1 mUI/ml, 17-ßeta Estradiol <19.0 pg/ml), remaining pituitary function unchanged. Gynaecological ultrasound showed prepubertal uterine morphology, with a medium-sized uterus, smaller in size for the age group, measuring 29 x 7 x 14 mm. The patient was started on 20 mg ethinyl estradiol + 150 mg desogestrel. Withdrawal bleeding was present 2 months after starting therapy. With the aim of inducing the expected gradual pubertal maturation and reducing the risk of osteoporosis/cardiovascular disease, except in cases where there is an absolute contraindication, young women with primary amenorrhea and incomplete sexual development should start estrogen therapy. We submit this Clinical case given the rarity of the entity and its importance in the differential diagnosis of primary amenorrhea.
13 May 2023 - 16 May 2023