No abstract available.
Hypoparathyroidism*

No abstract available.
Hypoparathyroidism*

No abstract available.
Hypoparathyroidism

Symptomatic bilateral striopallidodentate calcinosis is required to identify the underlying causes. Disorder of calcium metabolism, such as hypoparathyroidism is the most common cause. We report a patient with hypoparathyroidism induced intracranial calcification who presented seizure and psychotic symptoms in adult and finally diagnosed as a choromosome 22q11.2 deletion syndrome.
Adult ; Calcinosis ; Calcium ; DiGeorge Syndrome ; Humans ; Hypoparathyroidism ; Seizures

Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents. Imperforate anus and partial cleft palate were found at birth, which were surgically repaired thereafter. There was no history of neonatal hypocalcemia, and karyotyping by GTG banding was normal. At the age of 11, hypocalcemia (serum calcium, 5.0 mg/dL) and decreased parathyroid hormone level (10.8 pg/mL) was noted when she visited our Emergency Department for fever and vomiting. The 22q11DS was suspected because of her mild mental retardation and velopharyngeal insufficiency, and a microdeletion on chromosome 22q11.2 was confirmed by fluorescence in situ hybridization. The 22q11DS should be considered in the differential diagnosis of hypocalcemia at any age because of its wide clinical spectrum.
22q11 Deletion Syndrome* ; Anal Canal* ; Anus, Imperforate ; Calcium ; Child* ; Cleft Palate ; Delayed Diagnosis* ; Diagnosis ; Diagnosis, Differential ; DiGeorge Syndrome ; Emergency Service, Hospital ; Female* ; Fever ; Fluorescence ; Heart Defects, Congenital ; Humans ; Hypocalcemia* ; Hypoparathyroidism ; In Situ Hybridization ; Intellectual Disability ; Karyotyping ; Parathyroid Hormone ; Parents ; Parturition ; Velopharyngeal Insufficiency ; Vomiting

The 22q11.2 deletion is a genetic disorder which is characterized by abnormalities in cardiac functioning, facial structure, neurobehavioral development, T cell functioning, and velopharyngeal insufficiencies. In the presented case study, 22q11.2 deletion was found in a patient who has psychotic symptoms only. A 25-year-old woman with a history of hypoparathyroidism and hypothyroidism presented with auditory hallucinations and persecutory delusions. After three months of treatment with antipsychotic medications, the patient was readmitted with generalized tonic-clonic seizures. The following week, the patient went into sepsis. A fluorescent in situ hybridization (FISH) analysis revealed the presence of a 22q11.2 microdeletion. This case study suggests that psychotic symptoms can develop prior to the typical symptoms of a 22q11.2 deletion. As such, psychiatrists should test for genetic abnormalities in patients with schizophrenia when these patients present with seizures and immunodeficiencies.
Adult ; Delusions ; DiGeorge Syndrome ; Female ; Hallucinations ; Humans ; Hypoparathyroidism ; Hypothyroidism ; In Situ Hybridization, Fluorescence ; Psychiatry ; Schizophrenia ; Seizures ; Sepsis

PURPOSE: Insufficient production of the parathyroid hormone (PTH) by the parathyroid glands known as hypoparathyroidism, or a resistance against its action on target organs known as pseudohypoparathyroidism, cause PTH-related hypocalcemia associated with hyperphosphatemia. Signs and symptoms are caused by hypocalcemia. This study aimed to assess clinical characteristics, treatment, severity, onset time, and therapeutic responses of hypoparathyroidism and pseudohypoparathyroidism. METHODS: From January 2000 to February 2010, 21 hypoparathyroid and 10 pseudohypoparathyroid children were selected from Severance Hospital. Clinical manifestations and laboratory data were analyzed retrospectively. RESULTS: In hypoparathyroid patients, there were 14 with idiopathic hypothyroidism (66%) and 7 with 22q11.2 deletion syndrome (33%). Patients with hypoparathyroidism had more frequent neurologic symptoms compared to those with pseudohypoparathyroidism (2.89 +/- 1.75 vs. 1.25 +/- 1.67, P = 0.01). Required amounts of calcium to control hypocalcemia were larger in hypoparathyroidism than in pseudohypoparathyroidism (37.98 +/- 26.64 vs. 15.64 +/- 7.87 mg/day/kg, P = 0.034). After treatment, neurologic symptoms decreased significantly in hypoparathyroidism (P < 0.05) from 2.01 +/- 1.68 to 0.89 +/- 0.96. CONCLUSION: Hypoparathyroidism presented more severe symptoms than pseudohypoparathyroidism. Larger amounts of calcium were required to correct hypocalcemia in hypoparathyroidism than in pseudophypoparathyroidsm. These differences may be explained by the findings that distal tubules respond to PTH, in contrast to proximal tubules, in pseudohypoparathyroidism, because the GNAS gene coding is not imprinted at the distal tubular cells responsible for calcium reabsorption.
Calcium ; Child ; Clinical Coding ; DiGeorge Syndrome ; Humans ; Hyperphosphatemia ; Hypocalcemia ; Hypoparathyroidism ; Hypothyroidism ; Neurologic Manifestations ; Parathyroid Glands ; Parathyroid Hormone ; Pseudohypoparathyroidism

PURPOSE: The purpose of this study was to evaluate clinical manifestation, etiology and prognosis of hypocalcemic infants who were admitted with seizure. METHODS: We reviewed medical records of 32 infants admitted at the Asan Medical Center with hypocalcemic seizure retrospectively. We classified patients into vitamin D deficiency group(n=7, 21.9%), transient hypoparathyroidism group(n=4, 12.5%), relative hypoparathyroidism with hyperphosphatemia group(n=16, 50%), and others(n=5, 15.6%) according to the laboratory results. RESULTS: Of the 32 patients, 29 patients were improved. There were no differences in gestational age and birth weight among the three groups. In the vitamin D deficiency group, age of onset was later than those of the transient hypoparathyroidism group and relative hypoparathyroidism with hyperphosphatemia group(51.6+/-2.7 vs 8.3+/-.5, 8.2+/-.6 days). In the age when all laboratory results were normalized, transient hypoparathyroidism group was younger than those of vitamin D deficiency group and relative hypoparathyroidism group(33.2+/-4.6 vs 93.6+/-8.5, 77.1+/-2.4 days). In the total treatment period, relative hypoparathyroidism with hyperphosphatemia group was longer than those of vitamin D deficiency group and transient hypoparathyroidism group(68.9+/-3.5 vs 42.0+/-5.0, 25.0+/-4.3 days). Others included two 22q11.2 deletion syndrome patients, a congenital hypoparathyroidism, a pseudohypoparathyroidism, and an early neonatal hypocalcemia. CONCLUSION: Transient hypoparathyroidism and hyperphosphatemia were major causes of neonatal hypocalcemia. And high calcitonin and peripheral organ resistance to parathyroid hormone act on hypocalcemia. In infants after one month, vitamin D deficiency was also an important cause of hypocalcemia. Most of the patients were improved within 1-2 months after proper management, but relative hypoparathyroidism with hyperphosphatemia group needed longer treatment. So, it is necessary to perform a systematic study for several complex causes that explain above fact.
Birth Weight ; Calcitonin ; Chungcheongnam-do ; DiGeorge Syndrome ; Gestational Age ; Humans ; Hyperphosphatemia ; Hypocalcemia ; Hypoparathyroidism ; Infant* ; Medical Records ; Parathyroid Hormone ; Prognosis ; Pseudohypoparathyroidism ; Retrospective Studies ; Seizures ; Vitamin D Deficiency

CATCH 22 Syndrome is caused by chromosome 22q11.2 microdeletion, characterized by developmental abnormalities of the third and fourth pharyngeal pouches. It has a prevalence estimated at 1:3,000-1:9,000. Most deletions occurs sporadic, but autosomal dominant inheritance observed in 6-10% of cases. CATCH22 often diagnosed due to hypocalcemia during neonatal period or decreased immunity or facial defect, so it is very rare being diagnosed CATCH22 in adulthood. We report a 57 year old female who referred to mental change due to hypocalcemia and is diagnosed CATCH22. She was presented with hypoparathyroidism, single kidney due to renal agenesis, and mild facial defect. Our patient responded well to calcium and vitamin D treatment and she is on follow-up in outpatient clinic.
Ambulatory Care Facilities ; Calcium ; Congenital Abnormalities ; DiGeorge Syndrome ; Female ; Follow-Up Studies ; Humans ; Hypocalcemia ; Hypoparathyroidism ; Kidney ; Kidney Diseases ; Prevalence ; Vitamin D ; Wills

CATCH 22 is a medical acronym for cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velo-cardio-facial syndrome. It has a prevalence estimated at 1:3,000-1:6,000. Most deletions occur at de novo, but autosomal dominant inheritance is observed in 6-10% of cases. Hormonal disorders are common in patients with CATCH22 syndrome. While hypoparathyroidism was the predominant endocrine disturbance that has been documented in the DiGeorge syndrome, other hormonal defects, such as growth hormone deficiency, hypothyroidism, and hyperthyroidism have been occurred in patients with CATCH22 syndrome. The spectrum of parathyroid gland dysfunction in this syndrome ranges from severe neonatal hypocalcemia to normal parathyroid function. Most patients are usually diagnosed in young age, but a few patients with mild abnormality are presented later in life. We report a case of CATCH22 syndrome with normal parathyroid hormone and calcium level in an adult. The diagnosis of CATCH22 syndrome was confirmed by fluorescence in situ hybridization analysis.
Adult ; Calcium ; Chromosomes, Human, Pair 22 ; Cleft Palate ; DiGeorge Syndrome ; Fluorescence ; Growth Hormone ; Humans ; Hyperthyroidism ; Hypocalcemia ; Hypoparathyroidism ; Hypothyroidism ; In Situ Hybridization ; Parathyroid Glands ; Parathyroid Hormone ; Prevalence ; Wills