Endocrine Abstracts

A 10-year-old female was referred because of prolonged bleeding lasting for a week following a tooth extraction. She had menarche at the age of 9 years, and since then, she used to have regular heavy periods lasting for over two weeks every month. She had low haemoglobin, prolonged APTT and low von Willebrand antigen level. Therefore, she was diagnosed with von Willebrand disease. At the same time, she was found to have a high TSH and low free T4. She was referred to the paediatric endocrinology clinic because of abnormal thyroid function tests, short stature and possible precocious puberty. Her height was <0.4th centile. Tanner staging was B4, A1, and P1. History revealed that she always felt cold, has been constipated for the past 2 years and recently put on weight despite having a low appetite. She also had dry skin and extreme fatigue. There was a family history of heavy bleeding in the mother and older sister but no thyroid problems. Her thyroid functions showed a significantly raised TSH (>100 mU/l) and very low free T4 (1.1 pmol/l), positive thyroglobulin and negative anti-TPO antibodies. Baseline gonadotrophins were prepubertal with high FSH. Prolactin was also high. Thyroid ultrasound showed a small thyroid gland with a lobulated outline. Pelvic ultrasound showed a normal left ovary with an enlarged right ovary due to the presence of a septate cystic area. Reviewing the newborn screening database confirmed that a newborn screening for congenital hypothyroidism was done on day 6 of life and TSH was < 0.6 mU/l. She was started on levothyroxine with normalisation of von Willebrand factor antigen levels and coagulation profile within 3 weeks. Later, her periods stopped, her height improved, prolactin normalised, and the ovarian cyst disappeared. This case illustrates the multisystem effects of severe primary hypothyroidism: short stature, coagulation disorders (secondary von Willebrand factor deficiency), pseudoprecocious puberty, high prolactin and ovarian cysts. It also shows the quick resolution of symptoms following the initiation of levothyroxine treatment.