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.
To evaluate the endocrine profile of HRD patients.
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.
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.
Multiple endocrine abnormalities are common in patients with HRD syndrome. Periodic Screening of thyroid and adrenal functions is recommended.
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