title: The first case of association between postpartum thyroiditis and thyroid hormone resistance in an Italian patient showing a novel p.V283A THRB mutation.
abstract: BACKGROUND
  Postpartum thyroiditis (PPT) is characterized by the development of postpartum thyroid dysfunction, which may occur up to 12 months after delivery. The syndrome usually presents with transient thyrotoxicosis, followed by transient hypothyroidism. The association of this condition with resistance to thyroid hormones (RTH) has never been described.
  
  
  METHODS
  In this report, we describe a 30-year-old patient affected by RTH due to a novel p.V283A thyroid hormone receptor-β (THRB) heterozygous mutation in exon 8, which affects the ligand-binding domain, never before described in literature. A simple polymorphism was excluded through screening of 100 healthy controls.
  
  
  CONCLUSIONS
  The patient became pregnant twice (in 2008 and in 2009) and developed PPT after both deliveries. Two months after her first pregnancy and one month after her second pregnancy, she presented with severe endogenous thyrotoxicosis and concomitant suppressed thyrotropin (TSH) levels, which represents an unusual finding in patients affected by RTH. Other causes of hyperthyroidism were excluded. After the hyperthyroid phase, she became hypothyroid (TSH >75 mU/L and low free-thyroxine and free-tri-iodothyronine levels), and eventually returned to her usual euthyroid status. During the course of PPT, no specific treatment was required, except for β-blockers used to treat tachycardia during the hyperthyroid phase.
  
  
  CONCLUSIONS
  We report a unique case of a woman affected by RTH, due to a novel mutation V283A in THRB, who experienced PPT with a severe thyrotoxic phase after both her pregnancies. The association between RTH and PPT has never been reported in the literature. In particular, the marked suppression of TSH occurring when levels of TH are particularly elevated is not a frequent condition during RTH.
authors.affiliation: Department of Endocrinology, Catholic University, Rome, Italy.
authors.forename: Rosa Maria
authors.initials: RM
authors.lastname: Paragliola
authors.forename: Paola
authors.initials: P
authors.lastname: Concolino
authors.forename: Annapina
authors.initials: A
authors.lastname: De Rosa
authors.forename: Enrica
authors.initials: E
authors.lastname: Mello
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Alfredo
authors.initials: A
authors.lastname: Pontecorvi
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
authors.forename: Salvatore Maria
authors.initials: SM
authors.lastname: Corsello
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007558:Italy; D009154:Mutation; D050032:Postpartum Thyroiditis / Q000097:blood / Q000235:genetics*; D011247:Pregnancy; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000097:blood / Q000235:genetics*; D013971:Thyrotoxicosis / Q000097:blood / Q000235:genetics*; D013972:Thyrotropin / Q000097:blood*
chemical_list: D037042:Thyroid Hormone Receptors beta; D013972:Thyrotropin