ESPE Abstracts

Introduction: Physiological pubertal gynecomastia is common in adolescents aged 13-14 years. Most physiological pubertal gynecomastia regresses spontaneously within 1-2 years. In studies: If it lasts more than 2 years, if prepubertal has started, endocrine evaluation is recommended. Sex differentiation disorders or genital abnormalities such as increased aromatase activity, adrenal/testicular neoplasia, partial androgen insensitivity syndrome and Klinefelter syndrome,46,XX, testicular(SRY+) related hypogonadism should be investigated in these cases.

Case: The patient who was admitted with hair growth in the genital area at the age of 8 years and 6 months; height:128.2 cm (25-50 p;-0,24 sds), %Ideal Weight: 111, Physical Examination; Testicular volume: 2 ml/2 ml, Pubic Hair: Stage2, Axillary Hair:none. Lab; Thyroid Function Tests: normal, T.testosterone: 0.14ng/dl, DHEAS: 70µg/dl, 11DOC: 2.7ng/dl, 17OHP: 0.98ng/dL. In the 12 years and 11 months control of the patient, who developed obesity in the follow-up and regressed in the height percentile; height: 146.2 cm (3-10p; -1.46 sds), %Ideal Weight:138, Physical Examination; Testicular volume: 2 ml/2 ml, Pubic Hair: E4, and bilateral gynecomastia (breast right Stage 2, left Stage 2) was detected. AFP: <1.7ng/ml, E2 <11.8 ng/dl, beta hcg<2, prolactin: 21.9ng/ml, FSH: 1.26IU/l, LH:0.36IU/l, t.testosterone:17.11 ng/dl, DHEAS: 135 µg/dl, 11DOC: 0.58ng/dl, 17OHP: 0.69 ng/dl, breast USG: left 38x15 mm right 15x4 mm fibroglandular tissue was detected. Chromosome analysis was sent because the patient had prepubertal gynecomastia. Chromosome analysis: 45,X[2]/46,X, +mar[28].

Fish: nucish (DXZ1 x 1,Yp11.31 x 0, DYZ1 x 0)[5/ 50] /(DXZ1 x 1, Yp11.31 x 1, DYZ1 x 0)[45/ 50] Comment: 50 interphases nucleus was analyzed, a signal of each DXZ1 and SRY region was detected in 45 cells, but no signal could be obtained with the probe attached to the Yq11,31 region. A single signal of the DXZ1 region was observed in 5 cells.

Conclusion: Cases of 46,X,+mar karyotype, non-mosaic karyotypes in males with testicles without normal structural Y chromosome have been rarely reported. A marker chromosome is a structurally abnormal chromosome with no identifiable parts by conventional cytogenetic chromosome analysis. In the literature, similarly short stature and obesity have been observed in cases with 46,X,mar karyotype; pubertal gynecomastia was reported in one case.