AIP variant causing familial prolactinoma

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منابع مشابه

Prolactinoma during pregnancy causing compression symptoms responding to bromocriptine therapy.

A woman with pituitary macroadenoma causing pressure symptoms and a partial right third cranial nerve palsy during pregnancy is described. Complete resolution occurred using oral bromocriptine therapy alone and the remainder of the pregnancy was uneventful.

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Aggressive prolactinoma in a child related to germline mutation in the ARYL hydrocarbon receptor interacting protein (AIP) gene Prolactinoma agressivo na infância relacionado à mutação no gene da proteína ARYL hidrocarbono (AIP)

The objective of this study was to describe a familial screening for AIP mutations in the context of aggressive prolactinoma in childhood. A 12-year-old boy, presented headaches and bilateral hemianopsia. He had adequate height and weight for his age (50th percentile), Tanner stage G1 P1. His bone age was 10 years. Prolactin was 10.560 ng/mL (3-25), FSH and LH were undetectable, IGF-1, TSH, Fre...

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[Prolactinoma].

Prolactin-secreting tumours (prolactinomas) are benign neoplasms constituting about 40 percent of all pituitary tumours. The incidence of these tumours varies with age and sex, occurring most frequently in females between 20 and 40-years-old. The clinical symptoms of prolactinomas are menstrual dysfunction and galactorrhea in women and loss of libido and potency in men. Differential diagnosis o...

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A PCSK9 variant and familial combined hyperlipidaemia.

BACKGROUND Our discovery in 2003 of the first mutations of PCSK9 gene causing autosomal dominant hypercholesterolaemia (ADH) shed light on an unknown factor that strongly influences the level of circulating low density lipoprotein cholesterol (LDL-C). PCSK9 gain of function mutations cause hypercholesterolaemia by a reduction of LDL receptor levels, while PCSK9 loss of function variants are ass...

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Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening.

We present four FIPA kindred discussing clinical and molecular data and emphasizing the differences regarding AIP status, as well as the importance of genetic screening. Family 1 consists of five patients harboring somatotropinomas with germline E24X mutation in AIP. In one of the patients, acromegaly was diagnosed through active screening, being cured by surgery. Families 2 and 3 are composed ...

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ژورنال

عنوان ژورنال: Pituitary

سال: 2020

ISSN: 1386-341X,1573-7403

DOI: 10.1007/s11102-020-01085-5