Introduction: Turner syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of out 1/2500 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report a case of a variant TS with breast development.
Case report: A 9-year-old girl was referred to our paediatric endocrinology outpatient clinic with complaints of short stature and breast budding. She was born at 35+2 weeks with a birth weight of 1930 g (10th percentile) and a length of 41.5 cm (10th percentile). There was no family history of genetic or congenital disorders. On personal past history, the patient had been treated as transient tachypnea of newborn at first day after birth. And she was diagnosed as Kawasaki disease and Brown syndrome at March 2012, at other hospital and followed up echocardiogram every years. Her height on referral was 122.4 cm, which placed her in the 10th percentile on a Korean standard growth chart and at the 90th percentile on a TS growth chart; her weight was 30.5 kg (70th percentile). The mid-parental height was 164.5 cm (75th percentile). A physical examination revealed a Tanner stage III for breast development and Tanner stage I for pubic hair development, Her bone age was 11 years. Chromosome analysis revealed a 46,x,der(x)t(x;x)(p11.21;q11.2). The size and shape of the heart were normal on echocardiography and a kidney ultrasound was normal. Pelvic ultrasound can evaluate her prepubertal uterus, sized 40×5×9 mm, but ovaries cant be evaluated due to poor visualisation, so follow up evaluation must be considered. Thyroid function tests of the patient was normal. A GnRH agonist stimulation test demonstrated a basal LH level of under 0.1 mIU/ml with a peak level of 4.8 mIU/ml at 45 min and a basal FSH level of 8.5 mIU/ml with a peak level of 49.9 mIU/ml at 90 min. A serum oestradiol was under 5.0 pg/ml, and serum levels of IGF1 and IGFBP3 were within normal limits. These findings were not consistent with precocious puberty but LH peak was nearly up to the level of precocious puberty. The patient was treated with GH. And it can be helpful for her growth and emotional support.
Conclusion: Our case highlights the possibility of precocious puberty as an atypical clinical feature of TS. We emphasis on careful assessment on unusual growth pattern in any child, even though other underlying conditions.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology