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Characterisation of myocardial structure and function in adult-onset growth hormone deficiency using cardiac magnetic resonance.
(2016-12)
Growth hormone (GH) can profoundly influence cardiac function. While GH excess causes well-defined cardiac pathology, fewer data are available regarding the more subtle cardiac changes seen in GH deficiency (GHD). This ...
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 ...
A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
(2017-06)
There is a difficulty in the molecular diagnosis of congenital adrenal hyperplasia (CAH) due to the c.955C>T (p.(Q319*), formerly Q318X, rs7755898) variant of the CYP21A2 gene. Therefore, a systematic assessment of the ...
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion.
(2017-11-01)
Context: Carney complex (CNC) is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumors and a variety of pigmented skin lesions. CNC can be inherited as an autosomal dominant trait, ...
Cantú syndrome with coexisting familial pituitary adenoma.
(2018-03)
CONTEXT: Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations ...
Somatic USP8 mutations are frequent events in corticotroph tumor progression causing Nelson's tumor.
(2018-01)
OBJECTIVE: Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are frequent in corticotroph tumors causing Cushing's disease (CD). Corticotroph tumor progression, the so-called Nelson's syndrome (NS), is a ...
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty.
(2018-02-01)
Context: Self-limited delayed puberty (DP) is often associated with a delay in physical maturation, but although highly heritable the causal genetic factors remain elusive. Genome-wide association studies of the timing of ...
Prevalence of Diabetes on Santa Cruz Island in Galapagos Archipelago.
(2015-06-18)
This was an observational study offering a screening program for diabetes in a health clinic in Puerto Ayora town on Santa Cruz Island to determine the prevalence of this disorder and identify those at risk. A 1-month ...
Management of hypogonadism from birth to adolescence.
(2018-08)
Management of patients with hypogonadism is dependent on the underlying cause. Whilst functional hypogonadism presenting as delayed puberty in adolescence is relatively common, permanent hypogonadism presenting in infancy ...