ESPE Abstracts

Background: CHARGE syndrome is a variable entity. Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation in CHD7. Hypoplasia of the genitalia is a common feature and is most often attributable to hypogonadotropic hypogonadism which is described in 81% of the males and 93% of the female patients. Other genital anomalies are rare. Combined agenesis of the uterus and ovaries is so far only reported in one patient with suspected CHARGE syndrome.

Case presentation: A girl presented originally with cheilopalatoschisis, unilateral kidney agenesis, hearing problems attributed to bilateral hypoplasia of auditory ossicles and cochlea and aplasia of the semicircular canals. At age 18 years, the adolescent girl was seen in the endocrine clinic because of primary amenorrhea and subnormal breast development which were attributed to hypogonadotropic hypogonadism. Oestrogen treatment was initiated and gradually increased over 2 years into the range of oral oestro-progestagen contraceptives. Because of persistent amenorrhea, ultrasound and MRI examinations were performed and their results were compatible with combined agenesis of uterus (corpus and cervix) and ovaries. Genetic exploration disclosed a hitherto unreported c.3634_3637 deletion in exon 15 of CHD7, suggestive of CHARGE syndrome.

Conclusion: In an adolescent girl with a newly recognised CHD7 deletion and hypogonadotropic hypogonadism, the observation of persistent amenorrhea after prolonged oestro-progestagen treatment led to the sub-diagnosis of agenesis of uterus and ovaries thereby further expanding the geno-phenotype of so-called CHARGE syndrome.