Context The rare syndrome of hypoparathyroidism, retardation, and dysmorphism (OMIM #241410) is caused by the mutated tubulin chaperone E (TBCE) gene. This gene encodes a critical protein in the microtubule assembly pathway. Objective To evaluate the endocrine profile of HRD patients. Methods The study used a retrospective analysis of a large cohort of patients in a single university medical center. Sixty-three patients were diagnosed with HRD during 1990–2019; 58 of them had an endocrine evaluation. Main outcome measures: We investigated somatic growth parameters, the prevalence of hypoglycemia, growth hormone deficiency, hypothyroidism, hypogonadism, and cortisol deficiency. Results All patients were born small for gestational age, and severe growth retardation was found in all patients with mean height SDS of -8.8 (range -5.1 to -15.1) and weight SDS -18 (range -5.1 to -61.2). Serum IGF-1 concentrations were very low among the 21 studied patients: -2.32 SDS (range -0.6 to -2.7). Four out of 14 (28%) investigated patients had growth hormone deficiency. 55% of patients were hospitalized due to symptomatic hypoglycemia. adrenal glucocorticoid insufficiency was diagnosed in 22% of those tested. 36% of patients had hypothyroidism. Both hypogonadotrophic and hypergonadotrophic hypogonadism were observed. The main MRI findings were small anterior pituitary gland, small hippocampus, brain atrophy, thin corpus callosum, Chiari type I malformation, and septo-optic dysplasia. Conclusion Multiple endocrine abnormalities are common in patients with HRD syndrome. Periodic Screening of thyroid and adrenal functions is recommended.
BackgroundHypoparathyroidism, retardation, and dysmorphism (HRD) Syndrome is a rare disease composed of hypoparathyroidism, retardation of both growth and development, and distinctive dysmorphic features. Here, we describe the long-term morbidity and mortality in a large cohort of HRD patients and suggest recommendations for follow up and treatment.MethodsMedical records of 63 HRD syndrome patients who were followed at Soroka Medical Center during 1989–2019 were reviewed retrospectively. Information regarding demographics, medical complications, laboratory findings, and imaging studies was collected.ResultsThe mortality rate was 52%. The main causes of death were infectious diseases including pneumonia, septic shock, and meningitis. Multiple comorbidities were found including brain anomalies in 90% of examined patients (basal ganglia calcifications, tightening of corpus callosum, Chiari malformation, hydrocephalous, and brain atrophy), seizures in 62%, nephrocalcinosis and/or nephrolithiasis in 47%, multiple eye anomalies were recorded in 40%, bowel obstructions in 9.5%, and variable expression of both conductive and senso-neural hearing loss was documented in 9.5%.ConclusionHRD is a severe multisystem disease. Active surveillance is indicated to prevent and treat complications associated with this rare syndrome.
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