ESPE Abstracts

Introduction: Short stature is a term applied to a child whose height is 2 standard deviations (SD) or more below the mean for children of that sex and chronologic age (and ideally of the same racial-ethnic group).

Case report: We present a case of a girl aged 12 years, with normal perinatal and neonatal periods, GA=40 weeks, BW=2700 g, BL=49 cm, no medical history, no family history. The clinical exam revealed normal weight (BMI=18.4 kg/m2 P54) and short stature (-3.66 DS, H=125.5 cm), absence of breast development, pubarche, or adrenarche (Tanner stage B1P1), and shield chest, webbed neck, hand lymphedema. Based on the clinical exam we went further with the investigation for the diagnosis of short stature and its cause.

Laboratory and Intervention: The common laboratory features were within normal limits. The hypothalamic-pituitary-gonadal axis revealed hypogonadotropic hypogonadism (low value of Estradiol with very high values of gonadotropins). Values of Growth hormone and IGF1 (Somatomedin C) were normal, same as thyroid function, the autoimmune disease screening was negative. The chromosomal analysis identified the presence of two abnormal cell lines (chromosomal mosaic) - mos 45, X [40] / 46, X, + mar [3] For the exact description of the marker chromosome, it is recommended to complete the investigations with Fluorescence in situ hybridization. Thereby the presence of the Y chromosome and the SRY region is confirmed

Imaging investigations: Pelvic ultrasound identified a small, tubular shape uterus, no visible endometrium, and ovaries; Pelvic and abdominal MRI: identified a small uterus 18/7 mm and absence of ovaries; horseshoe kidneys The next step was to repeat the MRI with higher Tesla in the attempt to detect gonads finding a hypoplasic uterus, possible hypoplasic left ovary possible testicular mass anterior of the right kidney. Hand X-Ray revealed a 2-year delay in bone age.

Discussion: Particularity of our case were the delayed bone age (difference of 2 years), high values of gonadotropic hormones with inhibited estradiol, and the result of pelvis ultrasound with a small size of the uterus and the absence of the ovaries. These features led us to explore a molecular karyotype and thus the positive diagnosis of Turner syndrome with Y chromosome mosaicism. Due to the presence of the Y chromosome, affected patients should still undergo prophylactic removal of the gonads (oophorectomy or salpingo-oophorectomy), even if they appear to be streak gonads. Therefore, hormonal treatment can be initiated only after the removal of the gonads/streak gonads.