hrp0098p3-256 | Thyroid | ESPE2024

Van Wyk Grumbach syndrome – an exciting disease with different causes and forms of presentation

Reichardt Susen , Gemulla Gita , Hübner Angela

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 t...

hrp0095p1-225 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Nephrolithiasis and hypoparathyroidism with normocalcemia – detecting a new mutation solves the mystery

Reichardt Susen , Mayer Brigitte , Quitter Friederike , Huebner Angela

We report on a 17-year-old patient with hypoparathyroidism which was noticed during the diagnosis of a first renal colic a year and a half ago. At that time, a prevesical ureter stone on the right could be depicted sonographically, which disappeared spontaneously. Initially calcium levels in serum and urine were reported to be normal. However, a slight hypercalcemia and hypercalciuria as well as high normal vitamin D levels without vitamin D substitution were detected intermit...

hrp0097p1-586 | Thyroid | ESPE2023

Hyperthyroidism caused by severe bacterial infection

Flury Monika , Gita Gemulla , Reichardt Susen , Stamos Kristina , Taut Heike , Hahn Gabriele , Huebner Angela

We report on a nearly 4-year-old girl who presented to the emergency room of our paediatric clinic with high fever and poor general condition, swelling of the neck and swallowing difficulties. Laboratory chemistry showed a marked hyperthyroid metabolic state, so that initially a thyrotoxic crisis in Graves' disease was considered (TSH 0.03 mU/L (-), fT4 28.10 pmol/l (+)). Therefore, a short-term therapy with thiamazole was given. The thyroid autoantibodies were negative. ...