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LHX3 deficiency presenting in the United States with severe developmental delay in a child of Syrian refugee parents
Susan Ahern, Mark Daniels and Amrit Bhangoo
In this case report, we present a novel mutation in Lim-homeodomain (LIM-HD) transcription factor, LHX3, manifesting as combined pituitary hormone deficiency (CPHD). This female patient was originally diagnosed in Egypt during infancy with Diamond Blackfan Anemia (DBA) requiring several blood transfusions. Around 10 months of age, she was diagnosed and treated for central hypothyroidism. It was not until she came to the United States around two-and-a-half years of age that she was diagnosed and treated for growth hormone deficiency. Her response to growth hormone replacement on linear growth and muscle tone were impressive. She still suffers from severe global development delay likely due to delay in treatment of congenital central hypothyroidism followed by poor access to reliable thyroid medications. Her diagnosis of DBA was not confirmed after genetic testing in the United States and her hemoglobin normalized with hormone replacement therapies. We will review the patient's clinical course as well as a review of LHX3 mutations and the associated phenotype.
Describe an unusual presentation of undertreated pituitary hormone deficiencies in early life
Combined pituitary hormone deficiency due to a novel mutation in pituitary transcription factor, LHX3
Describe the clinical phenotype of combined pituitary hormone deficiency due to LHX3 mutations
Cushing's syndrome due to ectopic ACTH production by a nasal paraganglioma
F Serra, S Duarte, S Abreu, C Marques, J Cassis and M Saraiva
Ectopic secretion of ACTH is an infrequent cause of Cushing's syndrome. We report a case of ectopic ACTH syndrome caused by a nasal paraganglioma, a 68-year-old female with clinical features of Cushing's syndrome, serious hypokalaemia and a right paranasal sinus' lesion. Cranial magnetic resonance image showed a 46-mm mass on the right paranasal sinuses. Endocrinological investigation confirmed the diagnosis of ectopic ACTH production. Resection of the tumour normalised ACTH and cortisol secretion. The tumour was found to be a paraganglioma through microscopic analysis. On follow-up 3 months later, the patient showed nearly complete clinical recovery. Ectopic ACTH syndrome due to nasal paraganglioma is extremely uncommon, as only two other cases have been discussed in the literature.
Learning points
Ectopic Cushing's syndrome accounts for 10% of Cushing's syndrome etiologies.
Most paraganglioma of the head and neck are not hormonally active.
Nasal paraganglioma, especially ACTH producing, is a very rare tumour.