Two Cases of Acromegaly in a Family.

Kakiya, Satoshi; Kawakubo, Akitoshi; Toyama, Kiyonori; Yamamoto, Masahiro

doi:10.1507/endocrj.44.227

Cited by 8 publications

(2 citation statements)

References 13 publications

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“…Familial pituitary tumors are very rare. Only fourty five cases in 20 families have been reported (Jones et al, 1984, Pestell et al, 1989, McCarthy et al, 1990, Benlian et al, 1995, Kakiya et al, 1997 to date. The majority (67%) of these are growth hormone producing tumors.…”

Section: Introductionmentioning

confidence: 99%

Acromegaly in a family without a mutation in the menin gene

Ackermann

Krohn²,

Windgassen³

et al. 2009

Exp Clin Endocrinol Diabetes

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Familial pituitary tumors are rare. Only 45 cases in 20 families with acromegaly have been reported. A third of the cases (30%) is related to multiple endocrine neoplasia type 1 (MEN 1). We report two cases of acromegaly in one family with pituitary macroadenomas. A 46-year-old woman with elevated serum growth hormone (GH) and insulin-like growth factor (IGF-1) and a failure to supress GH in the glucose tolerance test underwent transsphenoidal surgery 4 years ago. Three years later her 24-year-old son also presented with typical signs of acromegaly. A pituitary macroadenoma was identified by MRT and he also underwent transsphenoidal surgery. There were no symptoms of McCune-Albright syndrome or other forms of endocrine hyperfunction in the two patients. In an attempt to identify the molecular etiology of the tumours DNA was extracted from paraffin fixed tissue from both patients. Exon 7 to 13 of the Gsp-protein and exons 1 to 10 of the menin gene were amplified by PCR. Although Gsp mutations have been identified in 40% of somatotroph tumors, direct sequencing of the PCR products showed no mutations in exons 7 to 13 of Gs alpha. Moreover no mutations were found in exons 1 to 10 of the menin gene. Therefore, molecular causes other than Gsp or menin gene mutations have to be considered as the molecular etiology of acromegaly in this family.

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Section: Introductionmentioning

confidence: 99%

Acromegaly in a family without a mutation in the menin gene

Ackermann

Krohn²,

Windgassen³

et al. 2009

Exp Clin Endocrinol Diabetes

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“…FIPAs are rare and usually occur independently of known genetic syndromes in a familial setting. Until recently, mainly cases of familial growth hormone (GH) secreting adenomas (clinically silent or functioning) and prolactinomas have been described [10,[15][16][17][18][19][20][21][22][23].…”

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confidence: 99%

Silent Familial Isolated Pituitary Adenomas: Histopathological and Clinical Case Report

et al. 2008

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Familial isolated pituitary adenoma (FIPA) is a rare condition independent of Carney Complex or MEN1. An international multicenter study recently described 28 nonfunctioning pituitary adenomas in 26 families with only two homogeneous nonsecreting phenotype families consistent of silent GH and silent gonadotroph adenomas, respectively. We present the clinical, genetic, and morphological analysis of two silent pituitary adenomas occurring in a man and his daughter, and discuss the differential diagnosis associated with their histological, immunohistochemical, and ultrastructural features. The patients developed invasive nonsecreting macroadenomas manifesting only with compressive symptoms. Genetic analysis in the father showed no MEN-1 germ-line mutation. Tissue samples obtained after paraseptal trans-sphenoidal surgery were studied by immunohistochemistry for adenohypophyseal hormones, low molecular weight cytokeratins (CAM 5.2), proliferation markers, and anterior pituitary transcription factors (Pit-1 and SF-1) and by electron microscopy for secretory granules. The clinical, histological, and immunohistochemical features of the lesions posed a differential diagnosis between a null cell adenoma and a silent corticotroph adenoma (Type II); on the basis of immunohistochemical stains for cytokeratin and adenohypophysis cell lineage markers, tumor behavior and ultrastructural studies we concluded for the second. The reported cases represent an as yet undescribed example of homogeneous family with silent corticotroph adenomas (Type II). Our observations support the trend for more aggressive behavior in nonsecreting FIPAs as compared with sporadic adenomas.

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Isolated Familial Somatotropinoma

Soares

Frohman

2004

Pituitary

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The great majority of growth hormone (GH)-secreting pituitary tumors are sporadic, though a few occur with a familial aggregation, either as a component of multiple endocrine neoplasia, type 1 (MEN1) or Carney Complex, or when unassociated with other tumors, as isolated familial somatotropinomas (IFS). This report reviews the clinical and genetic information available from the 46 families reported to date with the latter syndrome. In contrast to sporadic tumors, GH-secreting tumors in IFS occur at an earlier age, especially when all affected family members are from a single generation. The IFS gene is believed to be a tumor suppressor gene, based on the presence of loss of heterozygosity. Although the gene still remains to be identified there is strong evidence for linkage to a locus of less than 10 Mb on chromosome 11q13.1-13.3.

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Two Cases of Acromegaly in a Family.

Cited by 8 publications

References 13 publications

Acromegaly in a family without a mutation in the menin gene

Acromegaly in a family without a mutation in the menin gene

Silent Familial Isolated Pituitary Adenomas: Histopathological and Clinical Case Report

Isolated Familial Somatotropinoma

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