Endocrine Abstracts

Background: Turner syndrome (TS) is an important cause of short stature, however, there are a few reported cases of concomitant occurrence of TS and growth hormone deficiency (GHD).

Case report: We report a 23-year-old female with concominat TS and GHD, also presenting partial FSH/LH deficiency and primary myxedema. The patient had iniatially been evaluated at the age of 15 for short stature and primary amenorrhea when she was diagnosed with Turner syndrome (45 X karyotype) and primary hypothyroidism, but didn’t comply with treatment and follow-up recommendations. At clinical examination she was 130 cm (−5.4 SDS) and 47 kg in weight with proportionate dwarfism, dysmorphic facial features, webbed neck, brachydactyly, broad chest with wide-spaced nipples, genu valgum, flat feet, secondary sexual characters rated B2, P1 according to Tanner’s classification. Bone age was 9.5 years. Biochemical tests revealed: FSH=22.36 UI/l (n=3.85–8.78), LH=1.69 UI/l (n=2.12–10.89), Estradiol=18.36 pg/ml (n=22.4–115); IGF-1=88.42 ng/ml (n=103–326); PRL=28.7 ng/ml (n=3–26.72); freeT4 < 5.15 pmol/l (n=9–19), TSH >100 uUI/ml, ATPO >1000 UI/ml. Other hormone levels were within normal ranges. The serum ionogram, glucose, hepatic and renal function were also normal. Abdominal CT scan excluded renal anomalies. Echocardiogram was normal. The patient received Levothyroxine 75 μg/day with progressive normalization of thyroid hormone profile. During the next 3 months, PRL level normalized, but FSH (22.45 U/l) and LH (7.19 U/l) values indicated persistence of partial gonadotropin deficiency. Considering the severe short stature, we evaluated GH response in ITT, with peak GH after insulin induced hypoglycemia of 0.31 ng/ml demonstrating GH deficiency. Sella MRI showed adenohypophysis of normal size, convex cranially and inhomogeneous basally on the left side by the presence of a microadenoma of 6.5/4/7 mm. We considered the bone age of 9.5 years and unfused epiphyseal plates demonstrating growth potential and the rhGH therapy was initiated, at a dose of 30 μg/kg per day given by subcutaneous injection. The initiation of estrogen replacement therapy was postponed in function of the patient’s growth velocity. In a 3 month follow-up she grew 1.8 cm in height.

Conclusions: We presented a patient with Turner syndrome with severe short stature by concomitant GH deficiency; in this case with a non-functioning pituitary microadenoma, we can not exclude the hyperplasia of the TSH-producing cells associated with a long time untreated primary myxedema as a supplementary cause of GH deficiency. We will perform the long-term follow-up with close monitoring of rhGH therapy.