Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype

Abstract

Dubowitz syndrome (DS, % 223370) is a rare condition, firstly described in 1965, characterized by a constellation of different phenotypic features such as postnatal growth retardation, microcephaly, mild developmental delay, facial dysmorphism, bone marrow failure and propensity to malignant tumors (Wallerstein et al., 1997;Yue et al., 2013). Despite approximately 200 cases have been described so far, a specific genetic alteration has not been identified yet and the diagnosis is still made on clinical grounds. Facial features are the most recognizable signs suggestive of the syndrome

Hashimoto Thyroiditis in a Patient With Dubowitz Syndrome and Short Stature

“…GH deficiency may be a feature of DS. It requires a brain MRI with repeated measurements of IGF-1 because GH deficiency may be transitory [3]. In our case, the first IGF1 and MRI brains were normal.…”

“…The origin of growth impairment is still unknown, but there are multiple proposed mechanisms: GH deficiency, gene alterations involving the GH-IGF1 axis, and derangement in specific brain structures during fetal development [3].…”

“…Patients with DS suffer from growth impairment during the prenatal and postnatal periods. However, the cause of the growth failure is still undetermined [3].…”

“…Subjects with a Dubowitz phenotype should be investigated for endocrinological anomalies to recognize potentially life-threatening conditions such as adrenal insufficiency, as reported in one case [3]. So far, there is no known association between Dubowitz syndrome and Hashimoto thyroiditis and no reported cases.…”