Endocrine Abstracts

JOINT3019

Background: Primary ovarian insufficiency (POI) is characterized by 4 to 6 months of amenorrhea and elevated serum FSH and LH in females less than 40 years. Ovarian insufficiency is uncommon in pediatrics and typically results from a chromosomal abnormality or treatment for malignancy. Idiopathic POI in which no apparent precipitant is identified is even rarer.

Case report: The 17- year- old girl was diagnosed with primary amenorreha. She was born from a normal pregnancy, delivery in 40hbd, in good general condition, weight 2350g, length 52cm. The neonatal period was complicated by hypoglycemia, needing 10% intravenous glucose. Due to delayed puberty, the girl was consulted by a gynecologist, who diagnosed hypergonadotropic hypogonadism (FSH- 166.5; LH- 49.43). MRI scan excluded pathological changes in the pituitary gland. The uterus and ovaries were identified on an ultrasound. The girl was confirmed to have a normal female karyotype (46,XX). Genetic testing found a pathogenic variant in both alleles of the MSH5 gene. Disorders of the MSH5 gene are associated with primary ovarian insufficiency, a disease inherited in an autosomal recessive manner. A girl is given estrogen and progesterone as treatment.

Results: 1. Primary ovarian insufficiency should be considered in the diagnosis of primary amenorrhea. 2. Recognizing POI in teens who present with amenorrhea is essential in order to provide appropriate endocrine, and gynecologic care and counseling. 3. In patients with primary ovarian insufficiency, the risk of comorbidities and the possibility of genetic inheritance of the condition should be determined.