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      Hypocalcemia due to 22q11.2 deletion syndrome diagnosed in adulthood

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          Summary

          Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age.

          Learning points:

          • It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery.

          • A new diagnosis of a hereditary disease has familial implications and needs genetic counselling.

          • It is also important to discard other syndrome’s comorbidities.

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          Practical guidelines for managing adults with 22q11.2 deletion syndrome.

          Wai Fung, Nancy Butcher, Gregory Costain … (2015)
          22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities.Genet Med 17 8, 599-609.
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            Clinical features and follow-up in patients with 22q11.2 deletion syndrome.

            Caterina Cancrini, Pamela Puliafito, Maria Digilio … (2014)
            To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease.
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              Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome

              Evelyn Ning Man Cheung, Susan R. George, Gary A Costain … (2014)
              Summary Background 22q11·2 deletion syndrome (22q11·2DS) is a relatively common yet under-recognized genetic syndrome that may present with endocrine features. We aimed to address the factors that contribute to the high prevalence of hypocalcaemia. Methods We investigated hypocalcaemia in a well-characterized sample of 138 adults with 22q11·2DS (65 m, 73 F; mean age 34·2, SD 11·8, years) using laboratory studies and lifelong medical records. Logistic regression modelling was used to identify features associated with lifetime prevalence of hypocalcaemia. Results Of the total sample, 111 (80·4%) had a lifetime history of hypocalcaemia. Eleven (84·6%) of 13 subjects with neonatal hypocalcaemia had documented recurrence of hypocalcaemia. Lifetime history of hypocalcaemia was associated with lifetime prevalence of hypoparathyroidism (P < 0·0001) and hypothyroidism (P = 0·04), as statistically independent factors. Hypomagnesaemia was associated with concurrent hypocalcaemic measurements, especially in the presence of concurrent hypoparathyroidism (P = 0·02). Conclusions The results suggest that, in addition to the major effect of hypoparathyroidism, hypothyroidism may play a role in hypocalcaemia in 22q11·2DS and that there is a high recurrence rate of neonatal hypocalcaemia. Hypomagnesaemia may contribute to hypocalcaemia by further suppressing parathyroid hormone (PTH). Although further studies are needed, the findings support regular lifelong follow-up of calcium, magnesium, PTH and TSH levels in patients with 22q11·2DS. At any age, hypocalcaemia with hypoparathyroidism and/or hypothyroidism may suggest a diagnosis of 22q11·2DS.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Endocrinol Diabetes Metab Case Rep
                Journal ID (iso-abbrev): Endocrinol Diabetes Metab Case Rep
                Journal ID (hwp): EDM
                Title: Endocrinology, Diabetes & Metabolism Case Reports
                Publisher: Bioscientifica Ltd (Bristol )
                ISSN (Electronic): 2052-0573
                Publication date (Electronic): 5 January 2018
                Publication date Collection: 2018
                Volume: 2018
                Electronic Location Identifier: 17-0140
                Affiliations
                [1 ]Endocrine Unit , Hospital Comarcal d’Inca, Inca, Spain
                [2 ]Endocrine Unit , Hospital Universitari Son Espases, Palma, Spain
                Author notes
                Correspondence should be addressed to M Cabrer; Email: mariacabrer@ 123456gmail.com
                Article
                Publisher ID: EDM-17-0140
                DOI: 10.1530/EDM-17-0140
                PMC ID: 5763278
                PubMed ID: 29340157
                SO-VID: c8a4631d-12de-4069-bffc-2b7f830654b9
                Copyright © © 2018 The authors
                License:

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.

                History
                Date received : 29 November 2017
                Date accepted : 7 December 2017
                Categories
                Subject: Error in Diagnosis/Pitfalls and Caveats

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