The levels of duplication were lower in 3 sporadic cases than in 3 familial cases. High-density array comparative genomic hybridization revealed decreased log(2) ratios in all 6 male patients, consistent with somatic mosaicism, whereas none of the female XLAG patients showed evidence of mosaicism. The patients' duplications were all unique, ranging in size from 554 to 674 kb, with variable boundaries all included the GPR101 gene. (2016) studied 18 patients with XLAG, including 15 previously reported patients ( Trivellin et al., 2014 Beckers et al., 2015 Naves et al., 2016). Microcalcifications and follicle-like structures were common, and mitotic activity was generally low.ĭaly et al. The authors noted that features of the XLAG-related pituitary adenomas were remarkably similar, with most patients developing mixed somatotroph/lactotroph adenomas showing a characteristic sinusoidal and lobular architecture and containing both densely granulated and sparsely granulated somatotroph cells.

However, MRI in 3 (25%) of the patients showed diffuse enlargement of the gland, suggestive of pituitary hyperplasia rather than a distinct adenoma. In 9 (75%) of the patients, macroadenomas were present, all of which showed suprasellar extension. (2016) studied 12 patients with XLAG, including 10 female patients with germline duplications and 2 male patients who exhibited mosaicism for duplications at Xq26.3 (see CYTOGENETICS). (2016) concluded that GHRH hypersecretion can accompany the pituitary abnormalities seen in XLAG syndrome, and suggested that the pathology of the disorder may include hypothalamic dysregulation of GHRH secretion, consistent with localization of GPR101 ( 300393) in the hypothalamus. A ghrelin receptor agonist and an inverse agonist led to modest, statistically significant increases and decreases in GH secretion, respectively. The multi-receptor somatostatin analog pasireotide, but not octreotide, which mainly targets SSTR2, inhibited GH secretion. Coincubation with GHRH and a GHRH receptor antagonist blocked the GHRH-induced GH stimulation, and the GHRH receptor antagonist alone significantly reduced GH release. In vitro, the pituitary cells showed baseline GH and prolactin release that was further stimulated by GHRH administration.

The tumor was determined to be a combination of extensive GH/prolactin-positive hyperplasia of the anterior pituitary with an atypical mixed GH/prolactin adenoma, and staining for somatostatin receptor subtypes 2 (SSTR2 182452) and 5 (SSTR5 182455) was moderate to high. (2016) analyzed tissue from a pituitary tumor resected from a 2-year-old girl with XLAG syndrome.

Xlag 3.0