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Endocrine Abstracts (2017) 49 EP394 | DOI: 10.1530/endoabs.49.EP394


1Endocrinology, Diabetes and Metabolism Department, Coimbra Hospital and University Center, Coimbra, Portugal; 2Medical Genetics Unit, Coimbra Hospital and University Center, Coimbra, Portugal; 3Neurology Department, Coimbra Hospital and University Center, Coimbra, Portugal.

Introduction: Woodhouse-Sakati Syndrome (WSS) is a very rare autossomic recessive disorder caused by mutations in DCAF17 gene that primarily affects the endocrine and the nervous systems. It is associated with hypogonadism, diabetes mellitus, hypothyroidism, sensorineural hearing loss, alopecia and extrapyramidal findings. Treatment is symptomatic and managed by multidisciplinary teams. Less than 80 cases are reported to date.

Case report: We describe a 29-year-old woman with dysmorphic facial features, alopecia, mild intellectual disability and sensorineural hearing loss, referred to the Endocrinology department for primary hypothyroidism with negative thyroid autoantibodies, hypergonadotrophic hypogonadism with ovaries not visualized on pelvic ultrasound and diabetes mellitus diagnosed at 19 years of age. She was under treatment with levothyroxine, drospirenone+ethynyl estradiol and oral glucose lowering agents. Worsening of metabolic control led to start of insulin therapy. Week positivity for Islet-cell cytoplasmic autoantibodies and positive glutamic acid decarboxylase autoantibodies were detected. IGF1, GH, prolactin, cortisol and ACTH were normal. Progressive neurologic deficits included dysarthria, dysphagia, lower limb dystonia and spastic tetraparesis. Brain MRI showed generalized leukodystrophy. She was the only child of a consanguineous couple. Common genetic, metabolic and mitochondrial disorders were excluded. WSS was suspected. Sequencing of DCAF17 gene detected the homozygous variant c.1091+2T>C, not previously described in literature. However, since it affects the splice donor site of intron 10 and probably causes exon 10 skipping, it is likely to be pathogenic.

Discussion: When in presence of several endocrine disorders associated with multisystem involvement, it is fundamental to look for genetic disorders. Accurate clinical evaluation allows genetic diagnosis and counseling. A new homozygous variant of the DCAF17 gene was found in this case. The pathogenic mechanisms of the disease are still unclear; diabetes-related autoimmunity is not found in previously described cases. Also unlike other described cases, IGF1 was within normal limits. Endocrine consequences of WSS need frequent follow-up.

Volume 49

19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

European Society of Endocrinology 

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