The R304X mutation of the Aryl hydrocarbon receptor Interacting Protein gene in familial isolated pituitary adenomas: mutational Hot-Spot or founder effect?

in Journal of Endocrinological Investigation (2010), 33

Background: Mutations in the Aryl hydrocarbon receptor Interacting Protein (AIP) gene have been described in about 15% of kindreds with Familial Isolated Pituitary Adenomas (FIPA) and in a minority of ... [more ▼]

Background: Mutations in the Aryl hydrocarbon receptor Interacting Protein (AIP) gene have been described in about 15% of kindreds with Familial Isolated Pituitary Adenomas (FIPA) and in a minority of early onset sporadic pituitary adenomas (PA). Among the AIP mutations reported so far, the R304X (AIPR304X) represents, together with the "Finnish mutation" Q14X, the most common one. Methods: Three AIPR304X Italian families, including a newly reported kindred, have been genotyped for 12 genetic markers surrounding the AIP gene in order to look for a potential founder effect in Italy. Disease penetrance and genotype-phenotype correlations were also addressed. Results: Analysis of chromosome 11' genetic markers revealed a common haplotype in two AIPR304X kindreds originating from central Italy. Overall, seventeen mutations carriers were identified, including 7 patients and 10 unaffected subjects, respectively, arguing in this case for a disease penetrance of 41%. Mean age at diagnosis was 19.1+/-6.7 years-old, with females tending to be older than males. Though most PA were somatotropinomas (6/7), a great variability in disease severity was observed, even between subjects sharing the same at-risk haplotype. Conclusion: These data provide strong evidence for a new founder effect of the AIPR304X mutation in central Italy and the observed variations in disease severity point out the role of additional genetic or environmental factors in such kindreds. [less ▲]

Presurgical octreotide treatment in acromegaly

in Journal of Endocrinological Investigation (1993), 16(1-8), 137

The treatment of prolactinomas with cabergoline : results in 56 patients

in Journal of Endocrinological Investigation (1993), 16

Variability in the bovine GH receptor amino acid sequence

in Journal of Endocrinological Investigation (1992), 15(suppl 4), 59

Coexistence of Cushing's disease with uninodular adrenal hyperplasia.

in Journal of Endocrinological Investigation (1991)

Acute effects of Parlodel-LAR and response to long-term treatment with bromocriptine in a patient with a follicle stimulating hormone-secreting pituitary adenoma.

in Journal of Endocrinological Investigation (1991), 14(2), 135-8

A 68-year-old male patient presented with visual impairment due to a large pituitary tumor. After transsphenoidal adenomectomy the elevated serum FSH levels were lowered but not normalized. Deterioration ... [more ▼]

A 68-year-old male patient presented with visual impairment due to a large pituitary tumor. After transsphenoidal adenomectomy the elevated serum FSH levels were lowered but not normalized. Deterioration of the vision was detected five years later and tumor regrowth was evidenced. The patient was treated with the long-acting and repeatable form of bromocriptine (Parlodel-LAR). Three days after the first intramuscular injection it already resulted in an important improvement of the visual field defects. Serum FSH concentration was suppressed during a prolonged period, but no change in the size of the pituitary adenoma was recorded on CT scan. Long-term oral treatment with bromocriptine resulted in a sustained suppression of the serum FSH levels, without further visual improvement, but with a significant reduction of the volume of the adenoma. The rapid and prolonged effect of Parlodel-LAR upon the FSH secretion, with a possible correction of the visual field defects and a reduction of the tumor mass, could make this medication appropriate as adjunctive treatment in some gonadotroph cell adenomas. [less ▲]

A follicle-stimulating-hormone secreting pituitary adenoma treated with long acting repeatable bromocriptine.

in Journal of Endocrinological Investigation (1990), 13

Gonadotropin secretion in the bovine : localization of LH and FSH in pituitaries by electron microscopy.

in Journal of Endocrinological Investigation (1990)

Cyclical Cushing's disease and its successful control under sodium valproate.

in Journal of Endocrinological Investigation (1990), 13(11), 923-9

Several subgroups of Cushing's disease were recently described (anterior or intermediate lobe origin, hyper-or hypo-pulsatility of cortisol, presence or absence of response after GRH or TRH, cyclical ... [more ▼]

Several subgroups of Cushing's disease were recently described (anterior or intermediate lobe origin, hyper-or hypo-pulsatility of cortisol, presence or absence of response after GRH or TRH, cyclical Cushing's disease). We present here a detailed case report on a patient suffering from Cushing's disease whose endocrine functions were extensively investigated. Treatment with bromocriptine, as well as subsequent transsphenoidal surgery, were followed by rapid but transient reversal of symptoms. When clinical manifestations reoccurred, daily measurements of free urinary cortisol revealed a cyclic pattern of cortisol hyperexcretion. A study of ultradian rhythm revealed hyperpulsatility of cortisol secretion. More interestingly, a treatment with sodium valproate, a drug known to inhibit CRH production, was followed by a rapid and longstanding normalization of clinical and biological data for 2 years. Based on these data, and on information from the literature, the present case of Cushing's disease exhibits characteristics suggesting a possible hypothalamic origin. [less ▲]

Effect of transsphenoidal surgery on the LH pulsatility in women with microprolactinomas.

in Journal of Endocrinological Investigation (1985)