IMPE Abstracts

Background: Delayed puberty is defined in girls by the absence of breast development beyond 13 years old and in boys by the absence of testicular enlargement (< 4 ml) beyond 14 years old. In girls, delayed puberty is rare and often organic, and then Turner syndrome should be systematically suspected. In boys, delayed puberty is often constitutional and functional. The aim is to raise awareness of the diagnosis of atypical Turner syndrome.

Methods: We defined the etiology of atypical Turner syndrome by examining chromosome karyotype.

Results: We analyzed a patient from the Second Xiangya hospital of Central South of University. A 15-year-old female patient without menstruation, is short stature, with wide eye distance, facial freckles and teeth arranged irregularly, and the second sexual sign is not obviously developed which breast is not developed and the nipple spacing is large. There are no typical clinical manifestations of Turner syndrome such as blepharoptosis and web neck. The patient used to be a premature infant. (1)Laboratory test: β-HCG<1.20 MIU/ML；FSH 61.39 MIU/ML, LH 19.32 MIU/ML, E2 <10 MIU/ML, TSTO:12.65 ng/dL, PRL 17.7 ng/ml, PRGE 0.10 ng/ml, IGF-1 237.0 mg/L, IGFBP-3 5.30 mg/L, CPS 682.7 pmol/L, IRI 17.5 mu/L, COR 156.8 nmol/L. (2) Brain MRI: Suspicious abnormal signal in the right pituitary lobe, abnormal signal focus in the border area of anterior and posterior pituitary lobes, and symmetric abnormal signal change in the deep white matter area of bilateral cerebral hemispheres. (3) Ultrasound of uterus and accessories: Ultrasonic image of childish uterus (about 20 * 17 * 10mm), bilateral ovaries not detected. (4) Chromosome karyotype: 46，X，dup(X)(q25 q28)

Conclusions: The patient with delay puberty is diagnosed with atypical Turner syndrome caused by a structural variation of sex chromosome (X-chromosome has a repetitive sequence). Estradiol valerate tablets (0.25mg qd) were taken orally, followed up regularly in the outpatient department, and the treatment effect was observed later to adjust the plan in time.