ESPE Abstracts

Introduction: Isodicentric-Ychromosome;has phenotypic findings such as gonadal dysgenesis, short stature, Turner syndrome in girls, infertility in boys, and insufficient virilization. Here, a case with growth retardation, short statureand infertility findings, and isodicentric-Ychromosomal anomaly(in addition to tuberosclerosis) who underwent endocrine follow-up due to obesity will be presented.

Case: The patient, who was admitted with obesity at the age of 8, was born 3000g at term, was operated at the age of 2 for coarctation of the aorta, at the age of 7 years for adenoid hypertrophy and strabismus, and at the age of 6 he wasdiagnosed with tuberosclerosis-(Heterozygous mutation in theTSC2 gene)-due to recurrent seizures. He is receiving multiple antiepileptic therapy. There is mild mental retardation. There is a third degree consanguinity between the parents. His height127 cm (25-50p), weight 43kg(>97p), no acanthosis and striae. In his laboratory examination;liver-kidney functions, fasting-lipid profile, glucose metabolism were normal. Low free-T4(0.75ng/dl), normal TSH(3.6µIU/mL) value was found, anterior pituitary hormones were found to be normal, LT4 treatment was started. In imaging examinations; mild-hepatosteatosis, horseshoe kidney, increased convexity in favor of puberty in the upper part of the pituitary gland, multiple localized cortical tubercles were detected. While he was 10.5 years-old, bone age was 11.5years, height134 cm (1SDS), body weight 44 kg (1.2 SDS), testicular volumes 6/6 ml, and the growth rate was 4 cm /year. Peak growth hormone response to growth hormone stimulation tests was found to be sufficient. IGF1 value was between mean/+1SDS. He was 14.5 years-old, bone age was 16.5years, height was 149.9 cm(-2.15 SDS), body weight was 68.05kg(0.69 SDS), testicular volume was 12/15 ml, growth rate was 1.6 cm /year. Final height was150.9 cm (-4SDS). It was observed that testicular volumes didnot increase. FSH:26.26mIU/ml, LH:8.54mIU/ml, Total Testosterone:233.25ng/dl, AMH:7.6ng/ml(normal), inhibinB:9pg/ml(low). Karyotype:45,x,inv(9)(p12q13)[4]/46,xy,inv(9)(p12q13),idic(y)(p11.3) was found to be compatible with isodicentric-Y chromosome. In microarray analysis,1.6 millionbase deletion in Yp11.32 region and 26 million base duplication were detected in the Yp11.31q11.23 region. Inaddition, three PAR2 regions[pseudoautosomal region at theends of Yq(PAR2)] were detected, one of which is on the longarm of the X chromosome. There is SHOX gene in theYp11.32 region, which is a deletion, and it explains the short-stature. Bone densitometry was found to be osteopenic.

Conclusion: In cases with isodicentric-Ychromosome, hypogonadism/azoospermia, Noonan/Turner phenotype occur. The follow-up of our case is important in terms of predictingthat patients with this chromosomal anomaly may developshort stature and infertility in the follow-up.