APPALACHIAN REG HEALTHCARE Pikeville, Kentucky, United States
Disclosure(s):
Mahera Hasan, MD: No financial relationships to disclose
Acromegaly results from persistent hypersecretion of growth hormone (GH). Excess GH stimulates excessive hepatic secretion of insulin-like growth factor-1 (IGF-1), which causes most of the clinical manifestations of acromegaly. Acromegaly is a rare hormonal disorder, and it's often underdiagnosed due to its slow development, with prevalence estimates ranging from 1 to 9 per 100,000 people globally. The diagnosis of acromegaly is a biochemical one and does not require the presence of typical phenotypic features or the presence of a pituitary mass on imaging. Therefore, biochemical testing of anyone with a clinical picture suggestive of acromegaly is essential. We present a case of diagnosing acromegaly with minor clinical clues
A 48-year-old Caucasian lady with no known comorbid presented to Endocrine Clinic with complaints of sweating. Her thyroid evaluation showed normal thyroid levels along with positive TPO Antibodies indicating an autoimmune thyroid disease. On 6 months follow up visit patient complaint of irregular menstrual cycles for 2 months and workup including pituitary hormones was done that revealed elevated IGF1 718 ng/ml (70-225), and elevated GH 4.412ng/ml (0.003-0.971) at baseline, A Glucose GH suppression test was also done that showed failure of suppression of GH. Lab values are IGF 628ng/ml (N 70-225) and Fasting GH 6.007 ng/mL 30 Min-GH posttest 3.783 ng/mL 1 hour 4.528 ng/mL 90 Min-GH 4.932 ng/ml, 2 Hour-GH 5.861 ng/mL despite appropriate elevation of blood glucose. MRI Brain was done that showed cystic Sellar mass ,1.7 cm x 8.3 mm x 1.2 cm AP with appearance of some enhancing mural nodularity with no calcifications and invasion. Based on biochemical evidence and MRI findings, patient was referred to neurosurgery for surgical intervention and Transsphenoidal surgery was done. Pathology came back positive for Mammo somatotroph pituitary neuroendocrine tumor / adenoma and tumor expresses both growth hormone by using IHC staining of PIT1. Postoperatively, labs were monitored that showed IGF1 and growth hormone persistently elevated that is IGF 357ng/ml (77-225ng/ml) GH 1.575 (0.003-0.971). MRI was repeated and no tumor was localized to target with surgery hence medical management with octreotide was started and IGF and GH normalized after starting medical management with octreotide.
Early identification and confirmation are critical, as untreated acromegaly is associated with increased morbidity and mortality, and prompt intervention can reverse many complications. Therefore, maintaining a high index of suspicion and pursuing diagnostic evaluation in patients with atypical manifestations is critical to improving outcomes in acromegaly. The Endocrine Society specifically recommends measuring IGF-1 in patients with several acromegaly-associated comorbidities, even in the absence of classic features, to facilitate earlier detection and intervention
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