RESUMO
Background Resistance to thyroid hormone (RTH) commonly presents with goiter, attention deficit hyperactivity disorder (ADHD), short stature and tachycardia. However, due to its variable presentation with subtle clinical features, a third of the cases are mistreated, typically as hyperthyroidism. Case presentation A 15-year-old female with ADHD and oligomenorrhea was initially diagnosed as Hashimoto's thyroiditis but found to have a rare heterozygous mutation in c803 C>G (p Ala 268 Gly) in the THRß gene, confirming resistance to thyroid hormone. Conclusions Fluctuating thyroid function tests in addition to thyroid peroxidase antibody (TPO Ab) positivity complicated the diagnosis of RTH, initially diagnosed as Hashimoto's thyroiditis. A high index of suspicion is needed to prevent misdiagnosis and mistreatment.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Doença de Hashimoto/diagnóstico , Oligomenorreia/diagnóstico , Síndrome da Resistência aos Hormônios Tireóideos/diagnóstico , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Deficit de Atenção com Hiperatividade/metabolismo , Diagnóstico Diferencial , Feminino , Genes erbA/genética , Doença de Hashimoto/genética , Doença de Hashimoto/metabolismo , Humanos , Mutação , Oligomenorreia/genética , Oligomenorreia/metabolismo , Prognóstico , Testes de Função Tireóidea , Síndrome da Resistência aos Hormônios Tireóideos/genética , Síndrome da Resistência aos Hormônios Tireóideos/metabolismo , Hormônios Tireóideos/metabolismoRESUMO
BACKGROUND: A mild degree of clitoromegaly can be associated with patients with polycystic ovarian syndrome (PCOS). We describe an unusually significant clitoromegaly in a patient with PCOS. CASE: An 18-year-old nonobese female patient was referred for clitoromegaly. Her genitalia exam showed significant clitoral enlargement with a well-formed glans, clitoris measured at 35 mm for length and 10 mm for width. Pelvic ultrasound showed a left ovarian cyst. Her testosterone level ranged from 28.8 to 64.1 ng/dL (normal: 8.4-48.1 ng/dL) with normal sex hormone binding globulin. Other ovarian hormones were in acceptable ranges. SUMMARY AND CONCLUSION: This case demonstrates the coexistence of significant clitoromegaly, PCOS, and nonfunctioning ovarian cyst.
