Table 3 Summary of 28 cases of DiGeorge syndrome in adults with clinical manifestations
Study | Time | country | Gender | Age | Endocrine manifestations | Other manifestations | Familial 22q11.2DS | Treatment | Fellow-up |
|---|---|---|---|---|---|---|---|---|---|
P1 [10] | 2005 | England | Female | 24 | Seizure (hypocalcemia) Hypoparathyroidism | Learning difficulties Recurrent infections Electrocardiogram revealed a prolonged QT interval | Yes, She and her baby | Vitamin D | No |
P2 [10] | 2005 | England | Female | 52 | Hypocalcemia Hypoparathyroidism | Facial dysmorphism Patent ductus arteriosus Cervical lymphadenopathy | No | Not mentioned | No |
P3 [11] | 2006 | Italy | Male | 19 | Seizure (hypocalcemia) Hypoparathyroidism Vitamin D deficiency Parathyroid and thymus Hypoplasia Metabolic syndrome (insulin resistance, obesity, hypertriglyceridemia) | Facial dysmorphism Intellectual disability Multiple immune-related skin lesions Vasculitis Thrombocytopenia Antiphospholipid syndrome Hyperhomocysteinemia Hearing loss | No | Not mentioned | No |
P4 [12] | 2007 | America | Female | 32 | Hypocalcemia | Learning difficulties Atrial septal defect Ventricular septal defect Bacterial endocarditis Velopharyngeal incompetence | Yes, She and her son | Calcium Vitamin D | No |
P5 [13] | 2007 | America | Male | 40 | Seizure (hypocalcemia) Hypoparathyroidism | Basal ganglia calcification ECG revealed a prolonged QT interval | No | Calcium citrate Calcitriol | No |
P6 [14] | 2008 | England | Female | 29 | Spasms (hypocalcemia) | Facial dysmorphism Learning difficulties Language delay Velopharyngeal incompetence | No | Calcium Vitamin D | No |
P7 [15] | 2004 | America | Male | 32 | Seizure (hypocalcemia) Hypoparathyroidism Short stature | Facial dysmorphism Learning difficulties Hypernasal speech | No | Calcium citrate Valproic acid | No |
P8 [16] | 2010 | Italy | Male | 71 | Hypocalcemia Hypoparathyroidism | Facial dysmorphism Intellectual disability Anxious-depressive syndrome Parkin-sonism syndrome Basal ganglia calcification Cerebral dysrhythmia | No | Calcium citrate | No |
P9 [17] | 2011 | Australia | Male | 40 | Seizure (hypocalcemia) Hypoparathyroidism Vitamin D deficiency Developmental delay Osteoporosis | Facial dysmorphism Intellectual disability Childhood asthma Basal ganglion calcification | No | Calcium carbonate Calcitriol | No |
P10 [18] | 2012 | China | Female | 32 | Chest pain(hypocalcemia) Seizure (hypocalcemia) Hypoparathyroidism | Facial dysmorphism Intellectual disability Learning difficulties Tetralogy of Fallot Hypernasal speech Electrocardiogram revealed a prolonged QT interval | No | Calcium gluconate | Yes, 9Â months |
P11 [19] | 2013 | Thailand | Male | 26 | Carpopedal spasm (hypocalcemia) Hypoparathyroidism Short stature Obesity | Facial dysmorphism Intellectual disability Hearing loss Basal ganglion calcification | No | Calcium carbonate Alfacalcidiol | Yes |
P12 [20] | 2013 | Japan | Female | 36 | Hypocalcemia Hypoparathyroidism Hashimoto’s thyroiditis T2DM (diagnosed at 20 years old) Obesity | Facial dysmorphism Learning difficulties Tetralogy of Fallot Patellar dislocation Hearing loss | No | Calcium lactate Calcitriol Thyroid hormone replacement Hypoglycemia agent | No |
P13 [21] | 2013 | Portugal | Male | 34 | Loss of consciousness (hypocalcemia) Hypoparathyroidism Enlarged thyroid gland Follicular adenomata Delayed growth | Facial dysmorphism Learning difficulties Right-sided aortic arch Recurrent infections Multiple operations (testicular torsion, acute appendicitis, congenital epigastric hernia, supraumbilical hernia, accessory digit) | No | Calcium Alpha-calcidol Antiepileptic drugs | Yes |
P14 [22] | 2015 | America | Male | 29 | Hypocalcemia Acute Hypercalcemia (Excessive intake) | Tetralogy of Fallot Esophageal stricture Milk-alkali syndrome (MAS) hypercalcemia-induced pancreatitis | No | calcitonin | No |
P15 [23] | 2015 | Japan | Male | 39 | Seizure (hypocalcemia) Hypoparathyroidism | Facial dysmorphism Learning difficulties Delayed speech Cerebellar development disorder Anxiety disorder Otosclerosis Cataract ECG revealed a prolonged QT interval | No | Calcium Calcitoriol | No |
P16 [24] | 2015 | Japan | Male | 40 | Seizure (hypocalcemia) Hypoparathyroidism Obesity Short structure | Facial dysmorphism Intellectual disability Psychosis Tetralogy of Fallot Velopharyngeal incompetence Hyperprolinemia Basal ganglion calcification ECG revealed a complete right bundle branch block | No | Antipsychotic drugs Antiepileptic drugs alfacalcidol | No |
P17 [25] | 2016 | Japan | Male | 49 | Seizure (hypocalcemia) Hypoparathyroidism Vitamin D deficiency | Facial dysmorphism Intellectual disability Psychosis Velopharyngeal incompetence Cataract | No | Vitamin D Calcium gluconate | Yes, 1Â year |
P18 [26] | 2017 | Turkey | Male | 35 | Azoospermia | Facial dysmorphism Intellectual disability hypernasal speech | No | Not mentioned | No |
P19 [27] | 2017 | Japan | Male | 54 | Hypocalcemia Hypoparathyroidism | Facial dysmorphism cardiac anomalies (high-positioned RAA, ALSA, KD, and ASLBV) Lymphocytopenia | No | Not mentioned | No |
P20 [28] | 2018 | Portugal | Male | 58 | Spasms, dyspnea(hypocalcemia) Hypoparathyroidism Sparse hair Micropenis (Fertility function not mentioned) | Facial dysmorphism Intellectual disability Psychosis Velopharyngeal incompetence Hearing loss Cataract ECG revealed a prolonged QT interval | Suspected | calcium gluconate, calcium carbonate, cholecalciferol | Yes, 8Â months |
P21 [29] | 2018 | Spain | Male | 57 | Perioral and finger numbness(hypocalcemia) Hypoparathyroidism T2DM Obesity | Learning difficulties Intellectual disability Behavioral disturbance Recurrent infections Renal carcinoma Lymphocytopenia Hypertension Hypercholesterolemia | No | intravenous calcium, oral magnesium oral calcitriol | No |
P22 [30] | 2018 | Portugal | Male | 30 | generalised choreiform dyskinesias (hypocalcemia) Vitamin D deficiency | Facial dysmorphism Learning difficulties Psychosis Parkinson’s disease | No | calcium carbonate calcitriol | Yes, 1 year |
P23 [31] | 2018 | China | Female | 62 | Hypocalcemia, Hypoparathyroidism Short stature Obesity | Facial dysmorphism Intellectual disability Schizophrenia Lymphocytopenia Macrothrombocytopenia Hearing loss Impaired renal function Hyperphosphatemia | No | calcium calcitriol | No |
P24 [32] | 2020 | Japan | Female | 44 | Seizure (hypocalcemia) Hypoparathyroidism OYL, ventriculomegaly of the brain and lower thoracic spinal stenosis (secondary to hypoparathyroidism) | Facial dysmorphism Ventricular septum defect (cardiac VSD) Schizophrenia Deafness Cataract | No | Alfacalcidol calcium lactate | No |
P25 [33] | 2020 | Korea | Male | 36 | Seizure (hypocalcemia) Hypoparathyroidism | Facial dysmorphism Impaired renal function Hyperphosphatemia ECG revealed a prolonged QT interval | Â | calcium carbonate, calcitriol, valproate, | No |
P26 [34] | 2021 | India | Male | 40 | Seizure (hypocalcemia) Hypoparathyroidism Short stature | Facial dysmorphism Learning difficulties Cataract Hyperphosphatemia Basal ganglion calcification ECG revealed a prolonged QT interval | No | calcium gluconate calcium vitamin D analogues | Yes |
P27 [35] | 2021 | Germany | Female | 44 | Recurrent episodes of syncope (hypocalcemia) Hypoparathyroidism | ECG revealed a prolonged QT interval | No | vitamin D calcium Levetiracetam | No |
P28 [36] | 2021 | Netherlands | Male | 56 | Unconsciousness (hypocalcemia) Hypoparathyroidism Vitamin D deficiency | Intellectual disability Schizophrenia Velopharyngeal incompetence Psoriasis Cataract Renal insufficiency Hyperphosphatemia | No | calcium gluconate calcium carbonate alfacalcidol | Â |