ESPE Abstracts

Van Wyk and Grumbach reported the association of untreated chronic hypothyroidism with precious puberty, pituitary enlargement and multicystic ovaries first in 1960. TRH-induced TSH excess causes macropituitary gland and stimulation of the gonadal FSH receptors, which explains the phenotype isosexual precious puberty and multi-cystic ovaries. In the following we report on two patients with this rare syndrome. The first patient is an 11 year old girl from Venezuela, who moved to Germany 6 months ago and presented with tanner stage B4-5/P4/A2, a final height of 154 cm and a TSH of 20 mU/l. The girl experienced precocious puberty with menarche at 9 years and regular cycles. At the age of 3 months she was diagnosed with hypothyroidism due to increasing jaundice and fatigue. Treatment with L-thyroxine was initiated immediately, but has never been reevaluated since then. It was administered regularly until the age of 6 years. Then the girl did not receive any L-thyroxine for at least 1 year due to limited financial resources of the family. Ultrasonography revealed athyroidism as the cause of the congenital hypothyroidism. The second case is a 16 year old adolescent from Ukraine who developed goiter and persistent growth stagnation from age 12 years, which was not further investigated. She presented with chronic fatigue and weakness, that existed for about 1.5 years. At presentation her height was 143 cm with advanced puberty (B4-5/P3/A2). She experienced menarche at 14 years followed by regular menses. However, bone age was delayed by 2 years. We diagnosed severe hypothyroidism (TSH >200 mU/l, fT3/fT4: 0.6 pmol/l) with elevated thyroid autoantibodies. Sonography revealed a hypo-/dysplastic thyroid, probably as a residual state of „burned out“ Hashimoto thyroiditis. cMRI showed a macropituitary. Initially, the patient also had a 6.5 cm ovarian cyst on the right as well as polyserositis (free abdominal fluid, pleural and pericardial effusion), which completely disappeared after 5 weeks of L-thyroxine treatment. Now the patient has grown 5 cm, the fatigue and weakness are gone. Van Wyk Grumbach syndrome is characterized by various clinical presentations. The time of onset in childhood or adolescence determines the symptoms and the time of diagnosis influences the reversibility of symptoms. Prompt initiation of correct treatment with thyroxine can resolve reversible symptoms. Irreversible changes such as short stature after growth plate closure or thyroid hypoplasia persist, so we have to be aware of it.