Pseudohypoparathyroidism with Hashimoto’s thyroiditis and Turner syndrome: a case report

Zeng, Wen-Heng; Xu, Jingya; Jia, Minyue; Ren, Yong

doi:10.3109/09513590.2014.929654

Cited by 7 publications

(8 citation statements)

References 20 publications

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“…There are only a few detailed reports on the coincidence of autoimmune thyroiditis and iPPSD (23,24,(43)(44)(45)(46). The coincidence of Graves' disease (with positive TRAb) and clinically diagnosed iPPSD2 was described by Uchimura et al and iPPSD3 by Gerhardt et al (23,46).…”

Section: Discussionmentioning

confidence: 99%

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New insights into thyroid dysfunction in patients with inactivating parathyroid hormone/parathyroid hormone-related protein signalling disorder (the hormonal and ultrasound aspects): One-centre preliminary results

et al. 2022

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ObjectiveThis study aimed to present the spectrum of thyroid dysfunction, including hormonal and ultrasound aspects, in a cohort of paediatric and adult patients diagnosed with inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders 2 and 3 (iPPSD).MethodsThe medical records of 31 patients from 14 families diagnosed with iPPSD between 1980 and 2021 in a single tertiary unit were retrospectively analysed. Biochemical, hormonal, molecular, and ultrasonographic parameters were assessed.ResultsIn total, 28 patients from 13 families were diagnosed with iPPSD2 (previously pseudohypoparathyroidism [PHP], PHP1A, and pseudo-PHP) at a mean age of 12.2 years (ranging from infancy to 48 years), and three patients from one family were diagnosed with iPPSD3 (PHP1B). Thyroid dysfunction was diagnosed in 21 of the 28 (75%) patients with iPPSD2. Neonatal screening detected congenital hypothyroidism (CH) in 4 of the 20 (20%) newborns. The spectrum of thyroid dysfunction included: CH, 3/21 (14.2%); CH and autoimmune thyroiditis with nodular goitre, 1/21 (4.8%); subclinical hypothyroidism, 10/21 (47.6%); subclinical hypothyroidism and nodular goitre, 1/21 (4.8%); primary hypothyroidism, 4/21 (19%); and autoimmune thyroiditis (Hashimoto and Graves’ disease), 2/21 (9.6%). Thyroid function was normal in 7 of the 28 (25%) patients with iPPSD2 and in all patients with iPPSD3. Ultrasound evaluation of the thyroid gland revealed markedly inhomogeneous echogenicity and structure in all patients with thyroid dysfunction. Goitre was found in three patients.ConclusionThe spectrum of thyroid dysfunction in iPPSD ranges from CH to autoimmune thyroiditis and nodular goitre. Ultrasonography of the thyroid gland may reveal an abnormal thyroid parenchyma.

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Section: Discussionmentioning

confidence: 99%

“…There are few reports of thyroid ultrasound evaluation in iPPSD (7,(23)(24)(25). From a clinical paediatric endocrine standpoint, it is interesting and of practical value to determine how TSH resistance extrapolates to the ultrasound structure of the thyroid gland.…”

Section: Introductionmentioning

confidence: 99%

New insights into thyroid dysfunction in patients with inactivating parathyroid hormone/parathyroid hormone-related protein signalling disorder (the hormonal and ultrasound aspects): One-centre preliminary results

et al. 2022

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“…There are only few case reports which had shown association of PHP with autoimmune disorders like systemic lupus erythematosus, graves' disease and Evan's syndrome [2][3][4]. Zeng WH and colleagues reported a patient of Turner's syndrome who simultaneously had PHP and autoimmune thyroiditis [5]. Krysiak et al described a case of PHP who also had concurrent chronic thyroiditis and pernicious anaemia, and suggested autoimmune mechanism for parathyroid hormone resistance [6].…”

Section: Discussionmentioning

confidence: 99%

Association of Pseudohypoparathyroidism and Autoimmune Polyglandular Syndrome: Causal or Coincidental?

2018

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Pseudohypoparathyroidism (PHP) is a state of parathyroid hormone resistance and is characterised by low serum calcium, and elevated serum phosphate and parathyroid hormone level. Association of PHP with autoimmune disorders is rare and seldom reported in the literature. Here we describe a case of PHP who subsequently developed multiple autoimmune disorders (type 3 polyglandular autoimmune syndrome), which has not been reported so far.

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“…Grossi et al described the association between multiple autoimmune diseases (CD, AA, DMT1, AD) in a TS girl with mosaicism for X monosomy, partial deletion of chromosome 2q and duplication of chromosome 10p [35]. AITDs can also coexist with other endocrinological diseases, such as growth hormone deficiency [50,56,62] and pseudohypoparathyroidism [51]. Several mechanisms have been proposed to explain the increased susceptibility to autoimmune diseases in TS, including haploinsufficiency of X chromosome-related genes.…”

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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Pseudohypoparathyroidism with Hashimoto’s thyroiditis and Turner syndrome: a case report

Abstract: This is the first case report to describe a combination of Turner syndrome with these other clinical entities, and their co-existence should be considered and further investigated.

Cited by 7 publications

References 20 publications

New insights into thyroid dysfunction in patients with inactivating parathyroid hormone/parathyroid hormone-related protein signalling disorder (the hormonal and ultrasound aspects): One-centre preliminary results

New insights into thyroid dysfunction in patients with inactivating parathyroid hormone/parathyroid hormone-related protein signalling disorder (the hormonal and ultrasound aspects): One-centre preliminary results

Association of Pseudohypoparathyroidism and Autoimmune Polyglandular Syndrome: Causal or Coincidental?

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

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