Browsing Centre for Endocrinology by Title
Now showing items 164-183 of 560
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Genes underlying delayed puberty
(2018-11-15) -
Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK
(Oxford University Press, 2021-05-12)Context Although primary adrenal insufficiency (PAI) in children and young people is often due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur. The relative prevalence of these conditions ... -
Genetic Aspects of Pituitary Adenomas
(2017-06) -
The genetic background of acromegaly.
(2017-02)Acromegaly is caused by a somatotropinoma in the vast majority of the cases. These are monoclonal tumors that can occur sporadically or rarely in a familial setting. In the last few years, novel familial syndromes have ... -
The Genetic Basis of Delayed Puberty.
(2018)The genetic control of puberty remains an important but mostly unanswered question. Late pubertal timing affects over 2% of adolescents and is associated with adverse health outcomes including short stature, reduced bone ... -
The Genetic Basis of Delayed Puberty.
(2019)Delayed pubertal onset has many etiologies, but on average two-thirds of patients presenting with late puberty have self-limited (or constitutional) delayed puberty. Self-limited delayed puberty often has a strong familial ... -
Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes.
(Oxford University Press, 2021-06-16)CONTEXT AND OBJECTIVE: Growth hormone insensitivity (GHI) in children is characterized by short stature, functional IGF-I deficiency and normal or elevated serum GH concentrations. The clinical and genetic etiology of GHI ... -
Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.
(2011)Human genetic defects in the growth hormone (GH)-IGF-I axis affecting the IGF system present with growth failure as their principal clinical feature. This is usually associated with GH insensitivity (GHI) presenting in ... -
Genetic Evaluation Supports Differential Diagnosis in Adolescent Patients with Delayed Puberty.
(2021-08-01)CONTEXT: Pubertal delay can be the clinical presentation of both idiopathic hypogonadotropic hypogonadism (IHH) and self-limited delayed puberty (SLDP). Distinction between these conditions is a common but important ... -
Genetic regulation in pubertal delay.
(2019-10)Delayed puberty represents the clinical presentation of a final common pathway for many different pathological mechanisms. In the majority of patients presenting with significantly delayed puberty, there is a clear family ... -
Genetic Testing in Hereditary Pituitary Tumors.
(2023-12)Genetic testing is becoming part of mainstream endocrinology. An increasing number of rare and not-so-rare endocrine diseases have an identifiable genetic cause, either at the germline or at the somatic level. Here we ... -
Genetics of Acromegaly and Gigantism.
(MDPI, 2021-03-29)Growth hormone (GH)-secreting pituitary tumours represent the most genetically determined pituitary tumour type. This is true both for germline and somatic mutations. Germline mutations occur in several known genes (AIP, ... -
Genetics of pituitary adenomas
(2017-05-01)© 2017 Neurology India, Neurological Society of India. Clinically relevant pituitary tumors presenting with altered hormonal secretion or mass effect represent a significant proportion of patients in endocrinology clinics. ...