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

• Main Authors: Maria Elisa Amodeo, Elena Inzaghi, Annalisa Deodati, Stefano Cianfarani
• Format: Article
• Language: English
• Published: Wiley 2021-05-01
• Series: Molecular Genetics & Genomic Medicine
• Subjects: delayed puberty; Dubowitz syndrome; GH therapy; growth impairment; hypopituitarism
• Online Access: https://doi.org/10.1002/mgg3.1644

ABSTRACT Background Dubowitz syndrome (DS) is a complex and rare condition characterized by postnatal growth retardation, microcephaly, short stature, mild developmental delay, facial dysmorphism, skin eruption and bone marrow failure. Though approximately 200 cases have been described so far, no specific genetic analysis, laboratory tests or radiological exams are available to confirm the diagnosis which is still based on clinical and facial features. Although short stature is a major feature of the syndrome, no endocrine alterations have been reported so far and scant data are available about the efficacy and safety of GH treatment in these patients. Methods A 13‐year‐old male patient was referred to our attention for short stature. Endocrinological evaluation including GH axis, adrenal and gonadal functions were assessed. aCGH was performed. Results 14q terminal microdeletion associated with Dubowitz phenotype was found. Endocrinological investigations revealed the presence of hypopituitarism which showed a satisfactory response to short‐term growth hormone therapy. The subject also started glucocorticoid replacement therapy. Disorders in pubertal progression and gonadal function were noted. Conclusions Dubowitz syndrome (DS) includes different clinical findings variably occurring. Subjects with a Dubowitz phenotype should be carefully monitored for endocrinological anomalies. The prompt recognition of potential life‐threatening endocrinological condition for example adrenal insufficiency is mandatory in order to start an adequate and early treatment.