RESUMEN
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.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Enfermedad de Hashimoto/diagnóstico , Oligomenorrea/diagnóstico , Síndrome de Resistencia a Hormonas Tiroideas/diagnóstico , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno por Déficit de Atención con Hiperactividad/metabolismo , Diagnóstico Diferencial , Femenino , Genes erbA/genética , Enfermedad de Hashimoto/genética , Enfermedad de Hashimoto/metabolismo , Humanos , Mutación , Oligomenorrea/genética , Oligomenorrea/metabolismo , Pronóstico , Pruebas de Función de la Tiroides , Síndrome de Resistencia a Hormonas Tiroideas/genética , Síndrome de Resistencia a Hormonas Tiroideas/metabolismo , Hormonas Tiroideas/metabolismoRESUMEN
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.