Multiple Endocrine Deficiencies are Common in Hypoparathyroidism-Retardation-Dysmorphism Syndrome.

Abstract

CONTEXT:

The rare hypoparathyroidism-retardation-dysmorphism (HRD) syndrome (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 patients with HRD.

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 to 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 standard deviation score (SDS) of -8.8 (range: -5.1 to -15.1) and weight SDS -18 (range: -5.1 to -61.2). Serum insulin-like growth factor-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, and 55% of patients were hospitalized due to symptomatic hypoglycemia. Adrenal glucocorticoid insufficiency was diagnosed in 22% of those tested. Hypothyroidism was found in 36% of patients. Both hypogonadotrophic and hypergonadotrophic hypogonadism were observed. The main magnetic resonance imaging 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.

• Authors: Odeya David, Galia Barash, Rotem Agur, Neta Loewenthal, Lior Carmon, David Shaki, Dganit Walker, Rosa Novoa, Alon Haim, Eli Hershkovitz
• Journal: The Journal of clinical endocrinology and metabolism (J Clin Endocrinol Metab) Vol. 106 Issue 2 Pg. e907-e916 (01 23 2021) ISSN: 1945-7197 [Electronic] United States
• PMID: 33150438 (Publication Type: Clinical Trial, Journal Article)
• Copyright: © The Author(s) 2020. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: [email protected].

Topics

• Abnormalities, Multiple (epidemiology, etiology, pathology)
• Adolescent
• Adult
• Child
• Child, Preschool
• Endocrine System Diseases (epidemiology, etiology, pathology)
• Female
• Follow-Up Studies
• Growth Disorders (complications)
• Humans
• Hypoparathyroidism (complications)
• Incidence
• Infant
• Infant, Newborn
• Intellectual Disability (complications)
• Israel (epidemiology)
• Male
• Osteochondrodysplasias (complications)
• Prognosis
• Retrospective Studies
• Risk Factors
• Seizures (complications)
• Young Adult