Familial gigantism

Herder, Wouter W. de

doi:10.6061/clinics/2012(sup01)06

Cited by 8 publications

(8 citation statements)

References 37 publications

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“…The first information about gigantism was provided as early as in the Bible when describing the Goliath [12]. Acromegaly was first described under the name prosopoectasia in 1864 by Andrea Verga [13].…”

Section: Historical Background Of Acromegalymentioning

confidence: 99%

“…In the autopsy he found a tumor moving the optic nerve, while not showing normal pituitary gland [13]. In 1877, Brigidi first described the microscopic picture of this tumor [12]. The term acromegaly was introduced in 1886 by Pierre Marie; he also was the author of the description of this disorder [14].…”

Section: Historical Background Of Acromegalymentioning

confidence: 99%

“…In 1892, Roberto Massalongo linked the increased function of the pituitary gland with acromegaly [16]. In 1877, Henri Henrot noticed a tumor in the field of the pituitary gland also in a patient with gigantism [12]. Initially it was thought that it was a completely different disease entity from acromegaly [12].…”

Section: Historical Background Of Acromegalymentioning

confidence: 99%

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History of endocrinology in the world and in Poland

Dittfeld

Gwizdek

Brończyk-Puzoń

2017

Pediatr Endocrino Diabetes Metab

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Endocrinology is a branch of medicine dealing with the functioning of endocrine glands. Theain role of the endocrine glands is to control various functions and to adopt internal environment to changes in the external environment. Glands manage to do this by regulating the metabolism of target cells by hormones. One of the earliest connections with endocrinology is found in theHippocratic humoral hypothesis dating about 400 years BC. The author of the first endocrinological observations was Aristotle, who noticed changes in behavior and appearance in castrated roosters. In the Middle Ages winners of battles ate their enemies organs, such as the heart, brain, or gonads, believing that they were a source of special power.However, the last two centuries were a time of intensive development of the research in this field. Certainly, we can now look to the future awaiting the next breakthroughs that will revolutionize today's perception of endocrinology.

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Section: Historical Background Of Acromegalymentioning

confidence: 99%

Section: Historical Background Of Acromegalymentioning

confidence: 99%

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History of endocrinology in the world and in Poland

Dittfeld

Gwizdek

Brończyk-Puzoń

2017

Pediatr Endocrino Diabetes Metab

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“…Indeed, cases running in a family were first reported in the late 19 th century (Herder 2012). Growth hormone (GH)-secreting pituitary adenomas and/or hyperplasia are the main causes of gigantism in childhood.…”

Section: Introductionmentioning

confidence: 99%

Is IGSF1 involved in human pituitary tumor formation?

Faucz¹,

Horvath²,

Azevedo³

et al. 2015

Endocrine-Related Cancer

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IGSF1 is a membrane glycoprotein highly expressed in the anterior pituitary. Pathogenic mutations in the IGSF1 gene (on Xq26.2) are associated with X-linked central hypothyroidism and testicular enlargement in males. In this study we tested the hypothesis that IGSF1 is involved in the development of pituitary tumors, especially those that produce growth hormone (GH). IGSF1 was sequenced in 21 patients with gigantism or acromegaly and 92 healthy individuals. Expression studies with a candidate pathogenic IGSF1 variant were carried out in transfected cells and immunohistochemistry for IGSF1 was performed in sections from GH-producing adenomas, familial somatomammotroph hyperplasia and in normal pituitary. In two male patients, and in one female, with somatomammotroph hyperplasia from the same family, we identified the sequence variant p.N604T, which in silico analysis suggested could affect IGSF1 function. Of 60 female controls, two carried the same variant, and seven were heterozygous for other variants. Immunohistochemistry showed increase IGSF1 staining in the GH-producing tumor from the patient with the IGSF1 p.N604T variant compared to a GH-producing adenoma from a patient negative for any IGSF1 variants and to normal control pituitary tissue. The IGSF1 gene appears polymorphic in the general population. A potentially pathogenic variant identified in the germline of three patients with gigantism from the same family (segregating with the disease) was also detected in two healthy female controls. Variations in IGSF1 expression in pituitary tissue in patients with or without IGSF1 germline mutations point to the need for further studies of IGSF1 action in pituitary adenoma formation.

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“…PIT in MEN1 may occur in childhood, have rapid growth and development, be highly aggressive, and exhibit often invasive behavior, and most of these tumors are secreting macroadenomas at diagnosis. Prolactinoma is prevalent (80%), and the majority of the remaining cases are GH-secreting tumors, although non-functioning PITs (17%) may occur (20,43,146,147). The majority of MEN1/prolactinomas are benign, although rare cases may present with metastasis [297].…”

Section: Introductionmentioning

confidence: 99%

A differential diagnosis of inherited endocrine tumors and their tumor counterparts

Toledo¹,

Lourenço²,

Toledo³

2013

Clinics

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Inherited endocrine tumors have been increasingly recognized in clinical practice, although some difficulties still exist in differentiating these conditions from their sporadic endocrine tumor counterparts. Here, we list the 12 main topics that could add helpful information and clues for performing an early differential diagnosis to distinguish between these conditions. The early diagnosis of patients with inherited endocrine tumors may be performed either clinically or by mutation analysis in at-risk individuals. Early detection usually has a large impact in tumor management, allowing preventive clinical or surgical therapy in most cases. Advice for the clinical and surgical management of inherited endocrine tumors is also discussed. In addition, recent clinical and genetic advances for 17 different forms of inherited endocrine tumors are briefly reviewed.

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Familial gigantism

Abstract: Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

Cited by 8 publications

References 37 publications

History of endocrinology in the world and in Poland

History of endocrinology in the world and in Poland

Is IGSF1 involved in human pituitary tumor formation?

A differential diagnosis of inherited endocrine tumors and their tumor counterparts

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