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

Levy‐Shraga, Yael; Gothelf, Doron; Goichberg, Zohar; Katz, Uriel; Somech, Raz; Pinhas‐Hamiel, Orit; Modan‐Moses, Dalit

doi:10.1002/ajmg.a.38175

Cited by 18 publications

(30 citation statements)

References 26 publications

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“…ATD is common among individuals with 22q11.2DS. Thyroid autoantibodies were found in up to 5% of affected children and 30% of patients older than 17 years (127,129,133,134) (Table 1). In the study of Shugar et al, overt thyroid disease was noted in 9.5% of 169 children with the syndrome.…”

Section: Q112 Deletion Syndromementioning

confidence: 99%

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Kyritsi

Kanaka‐Gantenbein

2020

Front. Endocrinol.

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Autoimmune thyroid disease (ATD) is the most frequent cause of acquired thyroid dysfunction, most commonly presenting either as Hashimoto's thyroiditis or Graves' Disease. Hashimoto's thyroiditis is characterized by the presence of thyroid-specific autoantibodies, more commonly anti-thyroperoxidase antibodies in the serum and the typical inhomogeneous echostructure of the thyroid on a thyroid ultrasound examination. Hashimoto's thyroiditis can for a long time be accompanied by normal thyroid function and hypothyroidism can only progressively be established. Graves' disease is much less frequent in childhood and adolescence and presents with overt hyperthyroidism. After the onset of puberty, ATD affects females with a higher incidence than males, while during the prepubertal period there is not such a clear preponderance of affected females. ATD can occur either isolated or in the context of other autoimmune disorders, such as type 1 Diabetes mellitus (T1D), celiac disease, alopecia areata, vitiligo, etc. Especially at the pediatric age, a higher incidence of ATD is also observed in the context of specific genetic syndromes, such as trisomy 21 (Down syndrome), Klinefelter syndrome, Turner syndrome, or 22q11.2 deletion syndrome. Nevertheless, although thyroid dysfunction may also be observed in other genetic syndromes, such as Prader-Willi or Williams syndrome, the thyroid dysfunction in these syndromes is not the result of thyroid autoimmunity. Interestingly, there is emerging evidence supporting a possible link between autoimmunity and RASopathies. In this review article the incidence, as well as the clinical manifestation and accompanied pathologies of ATD in specific genetic syndromes will be presented and regular follow-up for the early identification of the disorder will be proposed.

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Section: Q112 Deletion Syndromementioning

confidence: 99%

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Kyritsi

Kanaka‐Gantenbein

2020

Front. Endocrinol.

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“…Furthermore, Tbx1 haploinsufficiency in mice produces embryos that exhibit facial dysmorphism typically associated with 22q11.2DS and that appeared smaller than the littermates [69]. In humans, a recent study of Israeli patients has indirectly supported the genetic effect on the ontogenetic disruption by finding no correlation between growth delays and palate anomalies or recurrent infections, and significant association with CHD [36].…”

Section: Discussionmentioning

confidence: 99%

“…infants and children) given velopharyngeal insufficiency and other gastrointestinal complications [4, 70]. In the second case, because, although it has been shown that there is a low prevalence of growth hormone deficiency in 22q11.2DS individuals, those patients with this endocrine disorder treated with growth hormone show growth improvement [36], even when an adequate dietary intake showed no results [71]. In the last case, given that CHD is commonly observed in patients and a recent study shows promising results that suggest that the embryonic treatment using vitamin B12 ameliorates Tbx1 gene haploinsufficiency in mice [72].…”

Section: Discussionmentioning

confidence: 99%

“…This deficiency has been suggested to be a result of other existent characteristics (e.g. feeding difficulties) in the syndrome, and genetic factors related to the deletion [34, 36, 37]. In both cases, this growth impairment would disturb the ontogenetic trajectory of patients and therefore could be considered as a factor influencing the facial variability of this syndrome.…”

Section: Introductionmentioning

confidence: 99%

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Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome

Farrera¹,

Villanueva²,

Vizcaíno

et al. 2019

Head Face Med

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Background22q11.2 deletion syndrome is a medical condition that results from genomic loss at chromosome 22. Affected patients exhibit large variability that ranges from a severe condition to mild symptoms. In addition, the spectrum of clinical features differs among populations and even within family members. The facial features related to this syndrome are not an exception, and although part of its variation arises through development, few studies address this topic in order to understand the intra and inter-population heterogeneities. Here, we analyze the ontogenetic dynamics of facial morphology of Mexican patients with del22q11.2 syndrome.MethodsFrontal facial photographs of 37 patients (mean age = 7.65 ± 4.21 SE) with del22q11.2DS and 200 control subjects (mean age = 7.69 ± 4.26 SE) were analyzed using geometric morphometric methods. Overall mean shape and size differences between patients and controls were analyzed, as well as differences in ontogenetic trajectories (i.e. development, growth, and allometry).ResultsWe found that Mexican patients show typical traits that have been reported for the Caucasian population. Additionally, there were significant differences between groups in the facial shape and size when all the ontogenetic stages were considered together and, along ontogeny. The developmental and allometric trajectories of patients and controls were similar, but they differed in allometric scaling. Finally, patients and controls showed different growth trajectories.ConclusionThe results suggest that the typical face of patients with del22q11.2DS is established prenatally; nonetheless, the postnatal ontogeny could influence the dysmorphology and its variability through size-related changes.

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“…Thyroid disorders are caused by either autoimmune processes or congenital malformations of thyroid lobes ( 3 ). Growth failure correlates with congenital heart defects ( 7 ) or feeding problems ( 1 , 8 ), and the prevalence of growth hormone deficiency has been reported to be 4% ( 9 ). Previous studies have found that patients with 22q11.2DS experience retarded growth during childhood followed by a period of catch-up growth ( 8 , 10 ).…”

Section: Introductionmentioning

confidence: 99%

Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome

et al. 2022

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BackgroundEndocrine disorders are common in patients with 22q11.2 deletion syndrome (22q11.2DS). This study aimed to elucidate the clinical manifestations of endocrine disorders, including parathyroid, thyroid and growth disorders, in Taiwanese patients with 22q11.2DS.MethodsFrom 1994 to 2020, the medical records of 138 patients with 22q11.2DS diagnosed at a tertiary referral medical center in Taiwan were thoroughly reviewed retrospectively.ResultsHypocalcemia was detected in 57 of 135 patients (42%); 33 of 104 patients (32%) had hypoparathyroidism, and in 87% of them, hypocalcemia was detected before the age of one. Most patients had precipitating stressors during symptomatic hypocalcemic episodes. Eighteen of 29 patients had overt hypoparathyroidism at the last visit: 11 had persistent hypoparathyroidism and the other seven had recurrent hypoparathyroidism. Four of 84 patients had thyroid disorders, including thyroid developmental anomalies in two, dyshormonogenesis in one and Graves’ disease in one. Fifty of 126 patients (40%) had short stature. Age (odds ratio (OR) 0.91; 95% confidence interval (CI) 0.86-0.96; P<0.001) and airway anomalies (OR 2.75; 95% CI 1.04-7.31; P<0.05) were significant risk factors for short stature in multivariate logistic regression model. Twenty-eight of the 30 patients with airway anomalies were associated with severe congenital heart disease. Adult height standard deviation score (SDS) in 19 patients was significantly lower than target height SDS (-1.15 ± 0.90 vs -0.08 ± 0.65, P<0.001).ConclusionsHypoparathyroidism is a common endocrine disorder in patients with 22q11.2DS. It is prudent to assess parathyroid function at diagnosis and during follow-up, especially in the presence of stress, to prevent symptomatic hypocalcemia. Although thyroid disorders are not so common as hypoparathyroidism, screening of thyroid dysfunction is justified in these patients. Patients with 22q11.2DS demonstrate a retarded growth pattern with a tendency of catch-up and regular monitoring of growth is indicated.

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

Cited by 18 publications

References 26 publications

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome

Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome

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