3/28/2023 0 Comments Xlag 4.0![]() However, DNA isolated from the pituitary tissue and forearm skin showed duplicated dosage of GPR101, suggesting that he is mosaic for this genetic abnormality.Ī, Growth chart before and after surgical and medical interventions. His phenotype suggested XLAG, but his peripheral leukocyte-, saliva-, and buccal cell-derived DNA tested negative for microduplication in Xq26.3 or GPR101. The patient remains well controlled with minimal side effects 7 years after presentation. ![]() Medical management was challenging until institution of continuous sc infusion of short-acting octreotide combined with sc pegvisomant and oral cabergoline. Germline PRKAR1A, MEN1, AIP, DICER1, CDKN1B, and somatic GNAS mutations were negative. A pituitary biopsy showed hyperplastic pituitary tissue with enlarged cords of GH and prolactin cells. ![]() Magnetic resonance imaging demonstrated a homogenous bulky pituitary gland (18 × 15 × 13 mm) without obvious adenoma. Laboratory testing revealed elevated serum prolactin (185 μg/L normal, 35.0 μg/L. His height Z-score was +4.89, and weight Z-score was +5.57. He complained of sporadic headaches and had coarse facial features. ![]() ![]() A 4-year-old boy presented with rapid growth over the previous 2 years. ![]()
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