ESPE Abstracts

Objectives: Premature ovarian insufficiency (POI) is mostly considered X chromosome abnormalities in child. Few of POI cases are associated with autosomal abnormalities. This study was to identify new genes involved POI in three girls.

Methods: Three girls who came to the hospital because of no menstruation were investigated. They were 14, 15, and 14 years old. They did not find any breast tissue in their physical examination. Clinical data, sex hormones, abdominal ultrasonography, chromosome karyotype analysis and Chromosome microarray analysis (CMA) was done.

Results: Patient 1 was a 14-year-old girl. Her height was 147 cm, weight 33 kg. Sex hormone values LH: 35.05 mIU/ml (1.50–9.30 mIU/ml), FSH: 105.6 mIU/ml (1.4–18.1 mIU/ml), E2: 17.3 pg/ml (0–44.5 pg/ml), T:19.6 ng/dl (241.0–827.0 ng/dl), PRL: 14.1 ng/ml (2.1–17.7 ng/ml), PRGE 0.55 ng/ml (0.28–1.22 ng/ml), DHEAS 144.6 μg/dl (34.5–568.9 μg/dl). Androstenedione 1.1 ng/ml (0.6–3.1 ng/ml), The abdominal ultrasound showed that the uterus was 1.9 * 0.7 * 1.2 cm³, the cervix was about 1.5 cm long, and the intima was thin. Chromosome karyotype: 46, XX. CMA: Del 15q25.2. Patient 2 was a 15-year-old girl. Her height was 153 cm, weight 53 kg, breasts have not yet developed with normal height growth and no significant wide nipple spacing or neck web phenomenon, no obvious neurological development behind. Sex hormone values LH: 24.29 mIU/ml, FSH: 87.1 mIU/ml, E2: 18.2 pg/ml, T: 34.7 ng/dl, PRl: 17.9 ng/ml, PRGE<0.21 ng/ml. DHEAS 97.1 μg/l. Androstenedione 0.6 ng/ml. The abdominal ultrasound showed that the uterus was 1.4 * 0.5 * 1.3 cm, the cervix was about 1.7 cm long, and the intima was thin. Chromosome karyotype: 46,XX. CMA: Del 19p13.3. Patient 3 was a 14-year-old girl. Her height was 136.4 cm, weight 38.5 kg, breasts have not yet developed, had been in sluggish growth for 11 years. Sex hormone values LH: 17.02 mIU/ml, FSH: 61.3 mIU/ml, E2: 16.3 pg/ml, T:11.9 ng/dl, PRL:11.3 ng/ml, PRGE<0.21 ng/ml. The abdominal ultrasound showed that the uterus was 1.4 * 1.4 * 0.6 cm, the cervix was about 1.9 cm long, and the intima was thin. Chromosome karyotype: 46,XX. CMA: Del 16P11.2.

Conclusions: All the 3 patients were adolescent girls, clinical diagnosis was POI. The presence of microdeletions in 15q25.2, 19p13.3 and 16P11.2 was confirmed by CMA detection. Compared with adult patients with POI, the proportion of chromosomal aberrations in adolescent POIs is significantly higher. Not only common Turner syndrome but also autosomal abnormalities should be noted, and CMA is a powerful weapon for finding autosomal minute mutations. It is recommended that young POI routinely perform CMA examinations.