Clinical case report

Zhang, Hongmin; Zhang, Xingyu; Yang, Mei

doi:10.1097/md.0000000000019518

Cited by 5 publications

(4 citation statements)

References 29 publications

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“…It was previously reported that hyperthyroidism went into remission in a 17-year-old female with TS and GD after 18 months of treatment with MMI but recurred 9 months later, and thyroid function returned to normal after 2 years of retreatment with antithyroid drugs [ 22 ]. Similarly, another study showed that MMI was used successfully to control hyperthyroidism in a patient with TS and GD [ 23 ]. However, in another report, PTU failed to control hyperthyroidism in a patient with TS and GD and the patient had to undergo subtotal thyroidectomy [ 24 ].…”

Section: Discussionmentioning

confidence: 99%

Rash and cholestatic liver injury caused by methimazole in a woman with Turner syndrome and Graves’s disease: a case report and literature review

Zeng¹,

Luo²,

Zhang³

et al. 2021

BMC Endocr Disord

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Background 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. Case presentation: 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 131I or thyroid surgery, hyperthyroidism was successfully controlled with PTU. No adverse drug reactions were observed after switching to PTU. Conclusions 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.

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Section: Discussionmentioning

confidence: 99%

Rash and cholestatic liver injury caused by methimazole in a woman with Turner syndrome and Graves’s disease: a case report and literature review

Zeng¹,

Luo²,

Zhang³

et al. 2021

BMC Endocr Disord

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“…Several reports described the association between GD and TS [49,58,60,61]. As for HT, the prevalence rate of GD in TS girls is higher than in the general population (Table 2).…”

Section: Turner Syndromementioning

confidence: 99%

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

Casto

Pepe

Pomi

et al. 2021

Genes

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Autoimmune thyroid diseases (AITDs), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), are the most common cause of acquired thyroid disorder during childhood and adolescence. Our purpose was to assess the main features of AITDs when they occur in association with genetic syndromes. We conducted a systematic review of the literature, covering the last 20 years, through MEDLINE via PubMed and EMBASE databases, in order to identify studies focused on the relation between AITDs and genetic syndromes in children and adolescents. From the 1654 references initially identified, 90 articles were selected for our final evaluation. Turner syndrome, Down syndrome, Klinefelter syndrome, neurofibromatosis type 1, Noonan syndrome, 22q11.2 deletion syndrome, Prader–Willi syndrome, Williams syndrome and 18q deletion syndrome were evaluated. Our analysis confirmed that AITDs show peculiar phenotypic patterns when they occur in association with some genetic disorders, especially chromosomopathies. To improve clinical practice and healthcare in children and adolescents with genetic syndromes, an accurate screening and monitoring of thyroid function and autoimmunity should be performed. Furthermore, maintaining adequate thyroid hormone levels is important to avoid aggravating growth and cognitive deficits that are not infrequently present in the syndromes analyzed.

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“…Patients diagnosed with Turner syndrome have a unique phenotype that includes a webbed neck, broad chest, and low posterior hairline. In addition, structural cardiac abnormalities, gonadal dysgenesis, hypertension and diabetes are some of the secondary sex characteristics observed in patients with Turner syndrome [ 2 , 3 ]. Nearly 40–60% of TS patients have a 45,X karyotype, on the other hand, 45,X/46, XX; 46,X,i(Xq); and other variants are observed in several TS patients [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)

Çobanoğullari

Akcan

Ergören

2023

Balkan Journal of Medical Genetics

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Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal trisomy 13, 18, and 21 and often for sex chromosomal aneuploidies (SCAs). Although the testing is also used for sex chromosomal aneuploidies, it is not as efficient as it is for common trisomies. In this particular study, we present a case for whom the NIPT diagnosis was originally 45,X and who was diagnosed with mixed gonadal dysgenesis 45,X/46,XY after birth. A 38-year-old [G3P3] pregnant woman underwent NIPT at 15 weeks’ gestation and was found to be at probable risk for 45,X. Because cordocentesis is an invasive procedure, the pregnant woman did not want to undergo cordocentesis. Consequently, postnatal cytogenetic analysis was performed and the baby’s karyotype was shown to be 45,X/46,X,+mar?. No numerical and/or structural anomalies were observed in the karyotypes of parents and siblings. Based on the microarray analysis of the analyzed sample, one copy of the X chromosome was detected in all cells and the presence of one copy of the Y chromosome was detected in a ~40% mosaic state: arr(X) x1,(Y)x1[0.4]. SRY gene duplication on Y chromosome was confirmed by fluorescence in situ hybridization (FISH) and microarray analysis. The patient’s clinical examination showed ambiguous genitalia (clitoromegaly) and dysmorphic facial features. The baby underwent surgery for aortic coarctation. The results were consistent with a genetic diagnosis of 45,X/46,XY mixed gonadal dysgenesis. Genetic counselling was offered to the family. In conclusion, NIPT still has potential limitations in correctly identifying sex chromosomes and mosaicism that may mislead clinicians and families.

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Clinical case report

Cited by 5 publications

References 29 publications

Rash and cholestatic liver injury caused by methimazole in a woman with Turner syndrome and Graves’s disease: a case report and literature review

Rash and cholestatic liver injury caused by methimazole in a woman with Turner syndrome and Graves’s disease: a case report and literature review

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)

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