Endocrine Abstracts

Introduction: The Morris syndrome, is a rare X-linked disorder in which patients with XY chromosomal makeup (corresponding to a male genotype) develop female sexual characteristics. Acromegaly is a rare disease related to excessive production of growth hormone (GH) and insulin growth factor-I (IGF-I). Rarely, acromegaly was reported to be associated to a chromosomal microduplications of Xq26.3, responsible for early onset form of acro-gigantism. However, cases of acromegaly associated with Morris syndrome have never been documented in the literature.

Case-report: We present the case of a 49-year-old woman with Morris syndrome, diagnosed in 1992 and undergoing gonadectomy and hormone replacement therapy for about 15 years, who came to our attention in June 2022 after removal of a somatotropinoma. The diagnosis of acromegaly was suspected by finding typical facies and acral extremity growth, reported to have arisen from 10 years. The patient underwent mandibular reduction surgery and removal of tubular adenoma of the colon in 2010. In June 2021, the patient performed random GH, IGF-I and prolactin (PRL) dosages which was found to be altered (GH: 7.14 mg/l, IGF-I: 686 ng/mL, PRL: 17.9 ng/ml). The GH dosages after 75 grams oral glucose tolerance test showed a GH paradoxical response (60 minutes after glucose administration GH was 8.99 mg/l, after 120 minutes GH was 13.40 mg/l). A contrasted pituitary MRI showed the presence of an 8 mm intrasellar lesion. Therefore, a transsphenoidal resection of the pituitary tumor was conducted in September 2021. The histological examination proved the diagnosis of somatotropinoma, with diffuse positive immunohistochemistry for GH and weak and focal positive immunohistochemistry for prolactin, also expressing Pit-1, p53, SSTR2A, synaptophysin and CAM5.2 and with Ki-67=1%. The patient also reported in previous clinical history: multinodular thyroid goiter, primary hypothyroidism under treatment with levothyroxine, hypovitaminosis D under cholecalciferol replacement therapy, hypertension being treated with beta-blockers and thiazide diuretic, obesity (BMI 40). At the last follow-up at our center in June 2023, the patient presented in fair general clinical condition, with improvement of related acromegaly symptoms, normalized baseline GH (0.1 ng/ml) and IGF-I (84 ng/ml) values, and negative pituitary MRI for signs of somatotropinoma recurrence. The clinical, laboratory and morphological picture documented remission from acromegaly.

Conclusions: Our clinical case describes for the first time to our knowledge the clinical association between Morris syndrome and acromegaly. Although this condition is rare, further genetic studies are needed to demonstrate a genetic association between these two conditions.