methimazole and Turner-Syndrome

Rash and cholestatic liver injury caused by methimazole (MMI) in patients with Turner syndrome (TS) and Graves's disease (GD) are rarely reported, and there is a paucity of reports on the management of this condition. It is not clear whether propylthiouracil (PTU) can be used as a safe alternative in this case.. A 37-year-old woman was admitted to our hospital with rash, severe pruritus and a change in urine colour after 2 months of GD treatment with MMI. Physical examination showed rash scattered over the limbs and torso, mild jaundice of the sclera and skin, short stature, facial moles, immature external genitals and diffuse thyroid gland enlargement. Liver function tests indicated an increase in total bilirubin, direct bilirubin, total bile acid, glutamic pyruvic transaminase, glutamic oxaloacetic transaminase and alkaline phosphatase. The level of sex hormones suggested female hypergonadotropic hypogonadism. The karyotype of peripheral blood was 46, X, i(X)(q10)/45, X. After excluding biliary obstruction and other common causes of liver injury, combined with rash and abnormal liver function following oral administration of MMI, the patient was diagnosed as having TS with GD and rash and cholestatic liver injury caused by MMI. MMI was immediately discontinued, and eleven days after treatment with antihistamine and hepatoprotective agents was initiated, the rash subsided, and liver function returned to nearly normal. Because the patient did not consent to administration of. While patients with TS and GD are undergoing treatment with MMI, their clinical manifestations, liver functions, and other routine blood test results should be closely monitored. When patients with TS and GD manifest adverse reactions to MMI such as rash and cholestatic liver injury, it is necessary to discontinue MMI and treat with antihistamine and hepatoprotective agents. After the rash subsides and liver function returns to nearly normal, PTU can effectively control hyperthyroidism without adverse drug reactions.

Topics: Adult; Antithyroid Agents; Chemical and Drug Induced Liver Injury; Cholestasis; Exanthema; Female; Graves Disease; Humans; Methimazole; Prognosis; Turner Syndrome

The incidence of Hashimoto's thyroiditis among patients who have Turner syndrome (TS) has increased, but Graves' disease (GD) in patients with TS is rarely reported. Here we report a rare case of TS with GD accompanied by hypogonadotropic hypogonadism.. We report the case of a 16-year-old girl who complained nervousness, fatigue, marasmus, heat intolerance, sweating, palpitation, and tremor lasting for more than a month. She had no medical history.. TS was diagnosed of the results of karyotyping demonstrated a gene karyotype of 46, X, i (X)(q10). GD was also diagnosed in this patient following the detection of thyroid function analysis.. Methimazole was administered after identification of GD. Due to the absence of secondary sex characteristics, the patient was given a conjugated estrogen preparation for 1 year, followed by the addition of estradiol cyproterone tablets for the onset of menstruation.. The hyperthyroidism symptoms of the patient had improved both clinically and laboratory tests after methimazole therapy. She was treated with estrogen and estradiol cyproterone, and the uterus and secondary sexual characteristics of the patient developed during 1 year follow-up.. TS generally presents as hypergonadotropic hypogonadism. However, hypogonadotropic hypogonadism cannot completely exclude TS. The diagnosis of this disease depends on chromosomal examination. The disease should be detected and treated as early as possible to improve life quality of the patient.

Topics: Adolescent; Antithyroid Agents; Diagnosis, Differential; Fatigue; Female; Graves Disease; Humans; Karyotyping; Methimazole; Tremor; Turner Syndrome

Aim of this commentary is to summarize the salient literature news on the relationships between autoimmune thyroid diseases (ATDs) and either Down syndrome (DS) or Turner syndrome (TS).According to literature reports both Hashimoto's thyroiditis (HT) and Graves' disease (GD) are more frequent in children with DS or TS than in those without these chromosomopathies.An up-regulation of proinflammatory cytokines might be responsible for the enhanced susceptibility of TS children to ATDs, whereas a dysregulation of immune system may favor the development of ATDs in DS.In TS children biochemical presentation of HT is less severe than in peer controls. In both DS and TS GD picture at the time of diagnosis is not significantly different than in the pediatric general population.The evolution over time of GD in DS and TS does not differ from that observed in the pediatric general population, whereas the evolution of HT in both TS and DS is more severe than in girls without these chromosomopathies.. The association with TS or DS is able to affect both epidemiology and course of ATDs by conditioning: a) an increased susceptibility to these disorders; b) a less severe biochemical presentation and a more severe evolutive pattern of HT in TS girls; c) a more severe biochemical presentation and evolution of HT in DS patients.

Topics: Antithyroid Agents; Child; Comorbidity; Down Syndrome; Genetic Predisposition to Disease; Graves Disease; Hashimoto Disease; Humans; Methimazole; Turner Syndrome

Epidemiological studies on the association between Turner syndrome (TS) and Graves' disease (GD) are sparse and no studies are available on the clinical course of GD in TS.. To retrospectively investigate the GD prevalence in children and young adults with TS and to compare the GD course in patients with or without TS who were followed up for 4.1 ± 0.6 and 4.5 ± 3.7 years, respectively.. The prevalence of GD in 408 TS patients was evaluated; presentation and evolution of GD under therapy were evaluated both in 7 patients with TS (group A) and in 89 patients without TS (group B).. (a) The prevalence of GD in TS patients was 1.7%; (b) GD in TS was not associated with a specific karyotype; (c) with respect to group B patients, those of group A exhibited at presentation more advanced age, a lower fT4 level and more frequent association with other autoimmune diseases, and (d) the clinical course under methimazole therapy was not different in the two groups.. The prevalence of GD in children and young adults with TS is 1.7% and in TS patients, GD presents later and its clinical course is not different than in those without TS.

Topics: Adolescent; Adult; Antithyroid Agents; Child; Child, Preschool; Comorbidity; Female; Graves Disease; Humans; Infant; Methimazole; Prevalence; Retrospective Studies; Turner Syndrome; Young Adult

Graves' disease in a girl with Turner's syndrome (karyotype 46,Xdel(Xp)) is described. Hyperthyroidism led to a pronounced acceleration of height velocity. During treatment with methimazole and L-thyroxine, height velocity normalized. The patient also developed spontaneous puberty with a clear-cut pubertal growth spurt. Final height, however, did not appear to be influenced either by Graves' disease or by spontaneous puberty.

Topics: Child; Female; Graves Disease; Growth Disorders; Humans; Methimazole; Propranolol; Puberty; Thyroid Function Tests; Thyroxine; Turner Syndrome