ESPE Abstracts

Background: The syndrome consisting of primary hypothyroidism, precocious puberty, and massive ovarian cysts was termed Van Wyk and Grumbach syndrome (VWGS) in 1960. Chronic lymphocytic thyroiditis is the more common cause of hypothyroidism in children. In patients with severe longstanding hypothyroidism, the sella turcica may be enlarged due to thyrotrope hyperplasia. Puberty tends to be delayed in hypothyroid children in proportion to the retardation in the bone age, although in longstanding severe hypothyroidism, sexual precocity has been described. An elevated serum prolactin, the latter possibly due to raised TRH which is known to stimulate prolactin as well as TSH, has been described in some cases, but gonadotropin levels are not elevated. It has been hypothesized that this syndrome of pseudopuberty in hypothyroid patients is due to cross- interaction of the extremely elevated serum TSH with the FSH receptor.

Case presentation: A 9-year-old Mongolian girl was examined in region with severe iodine deficiency in the South of Siberia (in Republic of Tuva). She presented with sexual precocity (menstruation, and breast development but relatively little sexual hair), galactorrhea, overweight, headaches and fatigue. On evaluation, she was found to have short stature, delayed bone age and pituitary enlargement. Multicystic ovaries revealed on ultrasonography. Laboratory data revealed severe hypothyroidism with autoimmune thyroiditis.

Physical data. Height - 118 cm (below – 2SDS), weigh 41 kg, BMI = 31. The skin is dry, scratching. Cardiac sounds are rhythmical, 72 beats per minute. Arterial pressure is 90/50 mm Hg. Sex formula: Ma3A1P1Me9. The thyroid gland was diffusely enlarged 2. In hormonal analysis: TSH - 88.1 mU/l; free T4 – 1.7 pmol/l; antibodies against thyroperoxidase - 715 U/l, prolactin - 1020 mU/l; LH 0.6 mU/l; FSH 0.5 mU/l; estradiol 14.6 pg/ml. X-ray of the wrist showed a delayed bone age (7 yrs). VWGS was diagnosed and thyroid replacement was started with resolution of the symptoms. Therapy: L-thyroxine 100 mcg. The examination after 3 months: TSH was 1.8 mU/l; free T4 – 16.7 pmol/l.

Conclusions. In a highly selected minority of children with untreated primary hypothyroidism, there is development of precocious puberty and progressively enlarging multicystic ovaries. The entire clinicopathologic picture reverts to normal status with the restoration of a euthyroid state by means of simple levothyroxine replacement therapy.