OBJECTIVE: To analyze the phenotype and genotype of a neonate with Hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome (HDR). METHODS: A female neonate with HDR syndrome and thyroid deficiency detected at the First Affiliated Hospital of Zhengzhou University on December 6,2023 was selected as the study subject, Low-coverage whole-genome sequencing (Lc WGS) and whole exome sequencing (WES) were carried out. Using "hypoparathyroidism""sensorineural deafness""renal dysplasia""HDR""Barakat" and"GATA3" as keywords, the CNKI, Wanfang Data Knowledge Service Platform and PubMed database were searched, and the retrieval time was set from the establishment to March 2025. RESULTS: A proband, a full-term female infant, had presented with feeding difficulty, micrognathia, and low-set ears. Serological test revealed hypocalcemia, hyperphosphatemia, hypoparathyroidism, low T3, low T4 and high TSH. Hearing test revealed bilateral sensorineural deafness. Ultrasonic test revealed absence of right kidney and thyroid. WES revealed that the she has harbored a deletion of approximately 6.67 Mb at 10p15.1p13, and Lc WGS confirmed the presence of a 6.70 Mb deletion in the same region, which was verified as a de novo variant. Literature review suggested that HDR was rarely diagnosed among neonates. Among the nine cases diagnosed in neonatal period, 66.6% (6/9) exhibited the typical triad, 77.7% (7/9) had hypoparathyroidism with hypocalcemic convulsion as the initial symptom, 22.2% (2/9) had sensorineural hearing loss or renal malformation, and 66.6% (6/9) had multiple malformations including facial dysmorphism and congenital heart disease. 55.5% (5/9) had a large deletion in the 10p15 region, whilst 33.3% (3/9) had a single gene variant. The range of the deletion had correlated with the diversity of clinical phenotypes in HDR syndrome, but the classic triad of symptoms may presented in any combination, independent of deletion size. Association of HDR with thyroid deficiency has been unreported previously. CONCLUSION For neonates presenting with one of the symptoms of HDR triad or in combination with other malformations, genetic testing should be carried out.
Humans ; Hypoparathyroidism/diagnosis* ; Female ; Infant, Newborn ; Hearing Loss, Sensorineural/diagnosis* ; GATA3 Transcription Factor/genetics* ; Nephrosis/genetics* ; Phenotype ; Exome Sequencing

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

No abstract available.
Basal Ganglia Diseases/diagnostic imaging/drug therapy/*etiology ; Calcinosis/diagnostic imaging/drug therapy/*etiology ; Calcium/therapeutic use ; Dietary Supplements ; Female ; Humans ; Hypoparathyroidism/*complications/diagnosis/drug therapy ; Middle Aged ; Tomography, X-Ray Computed ; Treatment Outcome ; Vitamin D/therapeutic use

Pediatric diseases are important because diagnosis and care for these can be complex. Among them, specific diseases have been associated with ocular involvement. This review presents the ocular manifestations of various pediatric diseases relevant to the clinician. An array of ocular manifestations of hyperthyroidism, hypoparathyroidism, diabetes mellitus, porphyria, cystinosis, mucopolysaccharidosis, Wilson disease, juvenile idiopathic arthritis, systemic lupus erythematosus, Marfan syndrome, Weill-Marchesani syndrome are described. In this review we will review ocular manifestations of systemic pediatric diseases for comprehensive understanding of eye involvement. With this review, authors can recognize the ocular manifestations for diagnosis and management of pediatric systemic diseases.
Arthritis, Juvenile ; Cystinosis ; Diabetes Mellitus ; Diagnosis ; Hepatolenticular Degeneration ; Hyperthyroidism ; Hypoparathyroidism ; Lupus Erythematosus, Systemic ; Marfan Syndrome ; Mucopolysaccharidoses ; Pediatrics ; Porphyrias ; Weill-Marchesani Syndrome

Female ; Humans ; Hypoparathyroidism ; blood ; diagnosis ; drug therapy ; Infant ; Infant, Newborn ; Male ; Parathyroid Hormone ; blood ; Retrospective Studies ; Vitamin D ; therapeutic use

Isolated hypoparathyroidism (IH) shows heterogeneous phenotypes and can be caused by defects in a variety of genes. The goal of our study was to determine the clinical features and to analyze gene mutations in a large cohort of Korean patients with sporadic or familial IH. We recruited 23 patients. They showed a broad range of onset age and various values of biochemical data. Whole exome sequencing was performed on two affected cases and one unaffected individual in a family. All coding exons and exon-intron borders of GCMB, CASR, and prepro-PTH were sequenced using PCR-amplified DNA. In one family who underwent the whole exome sequencing analysis, approximately 300 single nucleotide changes emerged as candidates for genetic alteration. Among them, we identified a functional mutation in exon 2 of GCMB (C106R) in two affected cases. Besides, heterozygous gain-of-function mutations in the CASR gene were found in other subjects; D410E and P221L. We also found one single nucleotide polymorphism (SNP) in the prepro-PTH gene, five SNPs in the CASR gene, and four SNPs in the GCMB gene. The current study represents a variety of biochemical phenotypes in IH patients with the molecular genetic diagnosis of IH.
Adult ; Aged ; Asian Continental Ancestry Group/*genetics ; Cohort Studies ; Heterozygote ; Humans ; Hypoparathyroidism/diagnosis/*genetics/pathology ; Middle Aged ; Nuclear Proteins/*genetics ; Parathyroid Hormone/*genetics ; Phenotype ; Polymorphism, Single Nucleotide ; Receptors, Calcium-Sensing/*genetics ; Registries ; Republic of Korea ; Transcription Factors/*genetics ; Young Adult

Dilated cardiomyopathy (DCM) is usually an idiopathic disease with a poor prognosis. Hypocalcemia is a rare and reversible cause of DCM. Here, we report a 50-year-old female with DCM, induced by idiopathic hypoparathyroidism, that improved after treatment with calcium.
Calcium/administration & dosage ; Cardiomyopathy, Dilated/diagnosis/*etiology/physiopathology ; Dietary Supplements ; Electrocardiography ; Female ; Humans ; Hypocalcemia/diagnosis/drug therapy/*etiology ; Hypoparathyroidism/*complications/diagnosis/drug therapy ; Middle Aged ; Recovery of Function ; Treatment Outcome ; Vitamin D/administration & dosage

PURPOSE: A total thyroidectomy for the treatment of bilateral thyroid benign nodules is still controversial. This study prospectively compared the prognosis and complications of a total thyroidectomy with those after a subtotal thyroidectomy. METHODS: Between September 2003 and October 2006, a total of 110 consecutive patients with bilateral thyroid benign nodules underwent either a total (n=77) or subtotal thyroidectomy (n=33). Temporary or permanent hypoparathyroidism, temporary or permanent recurrent laryngeal nerve palsy, operation time, the length of hospital stay, postoperative thyroxine dosage in both operation groups were compared. In addition, the detection rate of a malignancy through a permanent biopsy was examined. RESULTS: There was a higher rate of temporary hypoparathyroidism, longer length of hospital stay and higher thyroxine dosage needed in the total thyroidectomy group than in the subtotal thyroidectomy group. There were no significant differences in the permanent hypoparathyroidism, temporary or permanent recurrent laryngeal nerve palsy and operation time between the two groups. The histopathological diagnosis was a malignant tumor in 13 patients. CONCLUSION: This study suggests that a total thyroidecotmy can be performed without increasing risk of complications. A total thyroidectomy avoids recurrent nodules for the removal of the whole thyroid tissue, which avoids the need for secondary surgery with an increased risk of complications when compared with primary thyroid surgery. A total thyroidecotmy is considered the first choice for the management of bilateral thyroid benign nodules.
Biopsy ; Diagnosis ; Humans ; Hypoparathyroidism ; Length of Stay ; Prognosis ; Prospective Studies ; Thyroid Gland* ; Thyroidectomy* ; Thyroxine ; Vocal Cord Paralysis

Intracranial calcification is known to be a physiologic phenomenon and is often seen in brain CTs of patients visiting the emergency department. The pattern of a calcified lesion may be related to the pathologic condition, and calcified lesion itself may cause neurologic symptoms. The causes of pathologic intracranial calcification are infection, brain tumor, vascular disorder, endocrinologic disorders, and genetic disorder associated with calcium metabolic defects. The most common sites of intracranial calcification are the basal ganglia, subcortical tissue of the cerebrum, the thalamus, the choroid plexus, and the dentate nucleus of the cerebellum. The diagnosis of pathologic calcification can be done by using brain CT or MRI, and pathologic calcification should be differentiated from other causes of calcification by using laboratory data. We report and discuss a case of extensive intracranial calcification with idiopathic hypoparathyroidism.
Basal Ganglia ; Brain ; Brain Neoplasms ; Calcinosis ; Calcium ; Cerebellar Nuclei ; Cerebellum ; Cerebrum ; Choroid Plexus ; Diagnosis ; Emergency Service, Hospital ; Humans ; Hypoparathyroidism* ; Magnetic Resonance Imaging ; Neurologic Manifestations ; Thalamus

PURPOSE: Completion thyroidectomy is the removal of any thyroid tissue that remains after less than total thyroidectomy. The purpose of the present study is to review the processes and pathologic results leading to completion thyroidectomy, and to determine the degree of increased morbidity with completion thyroidectomy. METHODS: The hospital records of 60 patients treated from January 1981 to December 2000 were retrospectively reviewed. RESULTS: The subjects were 48 women and 12 men with ages ranging from 17 to 72 years (mean 46.3 years). Initial pathologic results were 46 cases of papillary carcinoma (76.6%), 12 of follicular carcinoma (20%), one of medullary carcinoma and one of Hurthle cell carcinoma. Initial operations were lobectomy in 51 cases, bilateral subtotal thyroidectomy in 6 and enucleation in 3. Completion thyroidectomies were performed due to tumor recurrence in 32 cases, confirmed malignancy following permanent sections in 21 and others in 7. Twenty-one of the cases were performed within 6 months after initial operations. Residual or recurrent carcinoma was found in 36 cases of the completion thyroidectomy specimens (60%). Postoperative complications were as follows: transient and permanent recurrent laryngeal nerve palsy occurred in 1 (1.7%) and 2 (3.3%) cases, respectively, transient and permanent hypoparathyroidism occurred separately in 15 (25%) and 4 (6.7%) cases, respectively, and there was one case of hematoma (1.7%) and one of wound infection (1.7%). There was no correlation between complications and the interval between initial surgery and reoperation. CONCLUSION: Completion thyroidectomy could be performed with minimal morbidity and might prevent the development of regional recurrence by eliminating an unsuspected focus of cancer. The surgeon should not feel obligated to perform a total thyroidectomy if the diagnosis of cancer is not secure, because the second stage operation can be performed over a wide time interval, allowing the physician and patient considerable latitude for decision making.
Carcinoma, Medullary ; Carcinoma, Papillary ; Decision Making ; Diagnosis ; Female ; Hematoma ; Hospital Records ; Humans ; Hypoparathyroidism ; Male ; Postoperative Complications ; Recurrence ; Reoperation ; Retrospective Studies ; Thyroid Gland ; Thyroid Neoplasms* ; Thyroidectomy* ; Vocal Cord Paralysis ; Wound Infection