Session: MON 167-198-Hypothalamus-Pituitary Development & Biology
Poster Board MON-189
Clinical case: A 24 year-old Caucasian male was referred to our endocrine clinic for acromegaloid features. For the last 2 years the patient noticed thickness of soft tissue of hands and feet, hyperhidrosis, oily texture, prognathism, skin tags, generalized weakness, snoring and decreased libido. He denied any family history (FH) of pituitary adenomas or cardiovascular disease. Physical examination revealed acromegalic features.
Biochemical testing showed increased levels of IGF-1 of 1043 ng/ml (normal range 116-358). GH was elevated and did not suppress after glucose administration. Free testosterone was low; but levels of TSH, FT4, early morning cortisol and prolactin where normal. MRI revealed a large macroadenoma measuring 3x2x4 cm, with left cavernous sinus invasion and optic chiasm compression. Visual field testing was normal. For comorbidity association evaluation a transthoracic echocardiogram was performed and showed a markedly thickened layer with numerous prominent trabeculations at left and right ventricular apex. These findings were considered suspicious for LVNC, which was later confirmed on cardiac MRI (ratio in diastole of non-compacted to compacted myocardial thickness of 4.25). He underwent partial transsphenoidal resection, followed by somatostatin analogs treatment. He is currently under cardiac care. Most cases of ACR are sporadic; yet, family ACR may occur with various hereditary conditions which includes familial isolated pituitary adenomas (FIPA) as well as isolated familial somatrotropinomas (IFS). A germline AIP (aryl hydrocarbon receptor-interacting protein) mutation is identified in about 40% of families with IFS, 20% of families with FIPA and 11% of simplex cases (lacking apparent FH) of young-onset ( age < 30 yrs) pituitary macroadenomas. LVNC can be sporadic or familial, with 12 to 50% of patients reporting a FH. Mutations have been reported in several genes. We speculate if two germline mutations may arise de novo and explain this association.
In conclusion, we report a rare association of ACR and LVNC. As these are unusual diseases, we questioned if they are completely unrelated. Considering the incidence of each one, the chance of independently having both is about 1.5 in one billion. To our knowledge, this is the first reported case of ACR in association with LVNC. Genetic investigation of AIP gene and other genes involved in LVNC may help elucidate the underlying mechanisms of the association described in this patient.
Nothing to Disclose: MMP, MPM, MG, LF, AT, RP
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