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Unusual Endocrinopathies in 18q Deletion Syndrome: Pseudoparathyroidism and Hyper-/Hypo-Thyroidism
OBJECTIVE: To describe new and unusual endocrinopathies in children with de novo 18q deletion (18q-) syndrome. METHODS: We describe 2 patients who have atypical thyroid conditions and 1 who also developed symptomatic hypocalcemia. RESULTS: The first patient developed hyperthyroidism at the age of 3...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Association of Clinical Endocrinology
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165197/ https://www.ncbi.nlm.nih.gov/pubmed/34095486 http://dx.doi.org/10.1016/j.aace.2020.12.012 |
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author | Kaulfers, Anne Marie D. Lim, Whei Ying Bhowmick, Samar K. |
author_facet | Kaulfers, Anne Marie D. Lim, Whei Ying Bhowmick, Samar K. |
author_sort | Kaulfers, Anne Marie D. |
collection | PubMed |
description | OBJECTIVE: To describe new and unusual endocrinopathies in children with de novo 18q deletion (18q-) syndrome. METHODS: We describe 2 patients who have atypical thyroid conditions and 1 who also developed symptomatic hypocalcemia. RESULTS: The first patient developed hyperthyroidism at the age of 3 years, with a free thyroxine level of 3.9 (range, 0.8-1.8) ng/dL. Thyroid peroxidase antibodies were 262 (range, 0-32) IU/mL, and thyroid-stimulating immunoglobulin antibodies were 384% (range, 0-139%). On low-dose methimazole treatment, she developed hypothyroidism. Thyroid-stimulating hormone (TSH) level was 163 (range, 0.4-4.5) mIU/mL. Moreover, she later developed growth hormone deficiency. The second patient developed hypothyroidism at the age of 4 years, with a TSH level of 46 mIU/mL. However, TSH remained elevated at levels of 10 to 24 mIU/mL for 3 years, despite appropriate treatment, suggesting TSH resistance. She then developed hypocalcemic seizures and was diagnosed with pseudohypoparathyroidism. Her total calcium level was 6.6 (range, 8.5-10.5) mg/dL and parathyroid hormone level was 432 (range, 15-65) pg/dL. CONCLUSION: The first patient had a mixed picture of autoimmune hypothyroidism and hyperthyroidism, requiring a combination of methimazole and levothyroxine to achieve a euthyroid state. For the second patient, the mild TSH resistance was possibly the early suggestion of a parathyroid hormone resistant state. Although growth hormone deficiency and hypothyroidism are common in patients with 18q- syndrome, the occurrence of hyperthyroidism due to Graves’ disease with the coexistence of Hashimoto’s hypothyroidism is rare. Pseudohypoparathyroidism has not yet been reported in patients with 18q- syndrome. |
format | Online Article Text |
id | pubmed-8165197 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | American Association of Clinical Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-81651972021-06-05 Unusual Endocrinopathies in 18q Deletion Syndrome: Pseudoparathyroidism and Hyper-/Hypo-Thyroidism Kaulfers, Anne Marie D. Lim, Whei Ying Bhowmick, Samar K. AACE Clin Case Rep Case Report OBJECTIVE: To describe new and unusual endocrinopathies in children with de novo 18q deletion (18q-) syndrome. METHODS: We describe 2 patients who have atypical thyroid conditions and 1 who also developed symptomatic hypocalcemia. RESULTS: The first patient developed hyperthyroidism at the age of 3 years, with a free thyroxine level of 3.9 (range, 0.8-1.8) ng/dL. Thyroid peroxidase antibodies were 262 (range, 0-32) IU/mL, and thyroid-stimulating immunoglobulin antibodies were 384% (range, 0-139%). On low-dose methimazole treatment, she developed hypothyroidism. Thyroid-stimulating hormone (TSH) level was 163 (range, 0.4-4.5) mIU/mL. Moreover, she later developed growth hormone deficiency. The second patient developed hypothyroidism at the age of 4 years, with a TSH level of 46 mIU/mL. However, TSH remained elevated at levels of 10 to 24 mIU/mL for 3 years, despite appropriate treatment, suggesting TSH resistance. She then developed hypocalcemic seizures and was diagnosed with pseudohypoparathyroidism. Her total calcium level was 6.6 (range, 8.5-10.5) mg/dL and parathyroid hormone level was 432 (range, 15-65) pg/dL. CONCLUSION: The first patient had a mixed picture of autoimmune hypothyroidism and hyperthyroidism, requiring a combination of methimazole and levothyroxine to achieve a euthyroid state. For the second patient, the mild TSH resistance was possibly the early suggestion of a parathyroid hormone resistant state. Although growth hormone deficiency and hypothyroidism are common in patients with 18q- syndrome, the occurrence of hyperthyroidism due to Graves’ disease with the coexistence of Hashimoto’s hypothyroidism is rare. Pseudohypoparathyroidism has not yet been reported in patients with 18q- syndrome. American Association of Clinical Endocrinology 2020-12-24 /pmc/articles/PMC8165197/ /pubmed/34095486 http://dx.doi.org/10.1016/j.aace.2020.12.012 Text en © 2020 AACE. Published by Elsevier Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Kaulfers, Anne Marie D. Lim, Whei Ying Bhowmick, Samar K. Unusual Endocrinopathies in 18q Deletion Syndrome: Pseudoparathyroidism and Hyper-/Hypo-Thyroidism |
title | Unusual Endocrinopathies in 18q Deletion Syndrome: Pseudoparathyroidism and Hyper-/Hypo-Thyroidism |
title_full | Unusual Endocrinopathies in 18q Deletion Syndrome: Pseudoparathyroidism and Hyper-/Hypo-Thyroidism |
title_fullStr | Unusual Endocrinopathies in 18q Deletion Syndrome: Pseudoparathyroidism and Hyper-/Hypo-Thyroidism |
title_full_unstemmed | Unusual Endocrinopathies in 18q Deletion Syndrome: Pseudoparathyroidism and Hyper-/Hypo-Thyroidism |
title_short | Unusual Endocrinopathies in 18q Deletion Syndrome: Pseudoparathyroidism and Hyper-/Hypo-Thyroidism |
title_sort | unusual endocrinopathies in 18q deletion syndrome: pseudoparathyroidism and hyper-/hypo-thyroidism |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165197/ https://www.ncbi.nlm.nih.gov/pubmed/34095486 http://dx.doi.org/10.1016/j.aace.2020.12.012 |
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