title: Van Wyk and Grumbach syndrome: an unusual form of precocious puberty.
abstract: An 8-year-old girl presented with precocious menstruation and growth delay. Laboratory data revealed hypothyroidism and an X-ray of the wrist showed a delayed bone age. The Van Wyk and Grumbach syndrome (VWGS) was diagnosed and thyroid replacement was started with resolution of the symptoms. The association of precocious puberty and/or polycystic ovaries, delayed bone age and hypothyroidism is known as the Van Wyk and Grumbach syndrome. Clinically this syndrome is a diagnostic challenge because hypothyroidism usually leads to pubertal and growth delay, whereas in case of VWGS hypothyroidism it leads to growth delay and precocious puberty. The pathophysiology of VWGS is not yet clear, but the most accepted theory states that the high concentrations of TSH are sufficient to cause activation of the FSH receptor and produce gonadal enlargement. Thyroid replacement therapy results in a resolution of all signs and symptoms. For this reason, conservative management of the ovarian masses is advocated. Our case is unique as this girl did not have breast development or multicystic ovaries (as the other cases in the literature). This may be due to an early recognition and relatively low TSH levels in comparison to other cases.
authors.affiliation: Department of Pediatrics, University Hospitals Leuven , Leuven , Belgium .
authors.forename: Anja
authors.initials: A
authors.lastname: Christens
authors.forename: Lieve
authors.initials: L
authors.lastname: Sevenants
authors.forename: Jaan
authors.initials: J
authors.lastname: Toelen
authors.forename: Dominique
authors.initials: D
authors.lastname: Bullens
authors.forename: Kristina
authors.initials: K
authors.lastname: Casteels
mesh_terms: D000365:Age Determination by Skeleton; D002648:Child; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology; D011629:Puberty, Precocious / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology; D013577:Syndrome; D013974:Thyroxine / Q000627:therapeutic use
chemical_list: D013974:Thyroxine