Dyshormonogenic hypothyroidism with normal neurological development, unexplained short stature and facial anomalies in three siblings

Abstract

We report three members of a family with clinical and laboratory features, consistent with dyshormonogenic hypothyroidism, with an autosomal recessive pattern of inheritance. Two had primary hypothyroidism with normal Tc(99m) thyroid scans, presenting with growth delay at ages of 7.5 and 2, and one had hypoplasia of the right lobe of the thyroid with left lobe hemiagenesis and low thyroid uptake in iodide thyroid scan, diagnosed at 14 months. They had slender facies with nasal retrognathic mandible and a prominent bridge. They had reasonably normal intellectual development despite delayed onset of treatment. Despite advancement of bone age with treatment the patients remained significantly short. Possible differential diagnoses are dyshormonogenic hypothyroidism, especially hyporesponsiveness to thyrotropin and short stature that may be due to an abnormal gene in this family.

The immunohistochemical demonstration of parafollicular cells and evaluation of calcium-phosphate balance in patients with thyroid hemiagenesis

“…Interestingly, among numerous cases of HT associated with different thyroid pathologies, there were no reports of medullary cancer [20,21]. In a number of patients, HT was accompanied by extrathyroidal abnormalities, including parathyroid adenoma [22], autoimmune polyglandular syndrome type III [23], Williams syndrome [24], pituitary adenoma [25], Down syndrome [26], Marfan syndrome [27], right aortic arch [28] or dysmorphic face with short stature [29]. However, it has never been investigated whether TH is associated with disturbances of the calcium-phosphate balance.…”

Thyroid hemiagenesis associated with medullary or papillary carcinoma: Report of cases

“…However, it is unclear whether disturbance of the lobulation process is because of the interference of environmental factors or to some genetic abnormality. The hypothesis that a genetic mechanism may underlie thyroid hemiagenesis is based on both identification of familial cases of thyroid hemiagenesis and demonstration of thyroid hemiagenesis in first degree relatives of patients affected by thyroid dysgenesis or ectopy . In mice with the knock‐out of TBX1 or SHH gene, thyroid develops as a unilobar gland resembling thyroid hemiagenesis in humans .…”

Does TSH Trigger the Anti-thyroid Autoimmune Processes? Observation on a Large Cohort of Naive Patients with Thyroid Hemiagenesis

“…Nevertheless, in accordance with published data, the calcium phosphate balance in THA subjects is undisturbed (McHenry et al 1995 ; Ruchala et al 2011 ). Other extrathyroidal pathologies coexisting with THA are: familial dilated cardiomyopathy and hypergonadotrophic hypogonadism (Gursoy et al 2006 ), autoimmune polyglandular syndrome type III (Papi et al 2003 ), pituitary adenoma (Leiba et al 1976 ), right aortic arch (Konno and Kanaya 1988 ), Down (Nebesio and Eugster 2009 ), Williams (Cammareri et al 1999 ) and DiGeorge Syndrome (Fagman et al 2007 ) or dysmorphic face with short stature (Vakili and Mazlouman 2003 ). The study conducted previously in our department, that remains the first systematic analysis in a cohort of 40 patients with THA, revealed surprisingly high incidence of autoimmune thyroid disease (AITD) in the studied group.…”