An Adult Case of 22q11.2 Deletion Syndrome Diagnosed in a 36-year-old Woman with Hypocalcemia Caused by Hypoparathyroidism and Hashimoto's Thyroiditis

Nakada, Yuki; Terui, Ken; Kageyama, Kazunori; Tsushima, Yuko; Murakami, Hiroshi; Soma, Yuko; Nigawara, Takeshi; Sakihara, Satoru

doi:10.2169/internalmedicine.52.9543

Cited by 15 publications

(6 citation statements)

References 16 publications

(19 reference statements)

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“…Most individuals present during infancy and it almost always resolves spontaneously as the parathyroid glands hypertrophy (Perez & Sullivan, ). However, as demonstrated in our cohort, as well as in other studies (Greig, Paul, DiMartino‐Nardi, & Saenger, ), hypoparathyroidism may reappear in individuals who had neonatal hypocalcemia and may present for the first time at any age (Furuya, Sasaki, Takeuchi, & Urita, ; Nakada et al, ). Delayed presentation of hypoparathyroidism may be attributed to congenital hypoplasia that becomes evident during period of increased demand of PTH, such as during cardiopulmonary bypass (Cuneo et al, ), acute illness (Cardenas‐Rivero, Chernow, Stoiko, Nussbaum, & Todres, ), puberty or adulthood (Habel et al, ).…”

Section: Discussionsupporting

confidence: 86%

Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome

Levy‐Shraga

Gothelf

Goichberg

et al. 2017

American J of Med Genetics Pt A

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22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. We aimed to characterize growth patterns, hypoparathyroidism, and thyroid dysfunction of individuals with 22q11.2DS. Anthropometric and laboratory measurements were obtained from the charts of 48 individuals (males=28, 8.0±6.8 visits/participant) followed at a national 22q11.2DS clinic between 2009 and 2016. Age at diagnosis was 4.3±4.9 years and age at last evaluation 11.2±7.2 years. Median height-SDS was negative at all ages. Height-SDS at last visit was correlated to the midparental height-SDS (r=0.52 P=0.002). Yet, participants did not reach their target height, with a difference of 1.06±1.07 SD (P <0.0001). Height-SDS at last visit of participants with a heart defect was lower compared to participants with a normal heart (-1.5±1.4 vs. -0.6±0.8, P=0.036), with lower height-SDS in the subgroup of participants with severe heart defects (-2.1±1.6, P=0.009). Mean IGF1-SDS was low (-0.99±1.68) but was not correlated with height-SDS. Thirteen patients (27%) had hypoparathyroidism: 10 presented during infancy and 3 during adolescence. Five patients (10.4%, female=4) had thyroid abnormalities. In conclusions, individuals with 22q11.2 DS have a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low-normal range. Hypoparathyroidism is common and may present during the neonatal period as well as later in life. Thyroid abnormalities may present during childhood, adolescence, or adulthood.

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Section: Discussionsupporting

confidence: 86%

Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome

Levy‐Shraga

Gothelf

Goichberg

et al. 2017

American J of Med Genetics Pt A

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“…Although most of the adult cases with 22q11.2 DS, including the present case, exhibited neurodevelopmental disorders or dysmorphic facial features, these findings were not recognized as phenotypic features of 22q11.2 DS. 22q11.2 DS had clearly been overlooked in 21 cases (48%), including the present case, at the time of the first medical examination leading to a diagnosis of 22q11.2 DS, since these 21 subjects had been previously diagnosed with hypocalcemia/hypothyroidism, cardiovascular anomalies, or psychiatric disorders ( 4 - 11 , 14 , 16 , 20 , 21 , 28 , 33 , 34 , 36 , 37 , 39 , 40 , 48 ).…”

Section: Discussionmentioning

confidence: 69%

An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch

Hoshino¹,

Machida²,

Shimano³

et al. 2017

Intern. Med.

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Chromosome 22q11.2 deletion syndrome (22q11.2 DS) has a very wide phenotypic spectrum that includes dysmorphic features, cardiac anomalies, and hypocalcemia arising from hypoparathyroidism. We herein describe an adult case of 22q11.2 DS with associated hypoparathyroidism and anomalies of the aortic arch. Because the patient had been diagnosed with primary hypoparathyroidism at another hospital, a diagnosis of 22q11.2 DS had been overlooked. A chest X-ray examination revealed widening of the mediastinum caused by a high-positioned right aortic arch, and we subsequently confirmed a diagnosis of 22q11.2 DS using fluorescence in situ hybridization. Because primary hypoparathyroidism is a rare disorder, physicians should be aware of the variable phenotypic features of 22q11.2 DS.

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“…Other cases diagnosed in adulthood have been published (23–43 years), but our case is one of the oldest at diagnosis to be described ( 9 , 10 ).…”

Section: Discussionmentioning

confidence: 73%

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

Cabrer

Serra

Gogorza

et al. 2018

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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SummaryChromosome 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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An Adult Case of 22q11.2 Deletion Syndrome Diagnosed in a 36-year-old Woman with Hypocalcemia Caused by Hypoparathyroidism and Hashimoto's Thyroiditis

Cited by 15 publications

References 16 publications

Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome

Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome

An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch

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

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