Browsing Centre for Endocrinology by Subject "Female"
Now showing items 1-20 of 20
-
Aggressive pituitary tumours and carcinomas, characteristics and management of 171 patients.
(2022-10-01)OBJECTIVE: To describe clinical and pathological characteristics and treatment outcomes in a large cohort of aggressive pituitary tumours (APT)/pituitary carcinomas (PC). DESIGN: Electronic survey August 2020-May 2021. ... -
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 ... -
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 ... -
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 ... -
Effects of the COVID-19 pandemic on the incidence of central precocious puberty; a narrative review.
(2024-02-26)Central precocious puberty (CPP) is the premature activation of the hypothalamus-pituitary-gonadal axis, resulting in the early development of secondary sexual characteristics. CPP classically occurs before the age of 8 ... -
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, ... -
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 ... -
Macro-GH - A clinical entity causing a diagnostic challenge - A case report.
(2023-06-01)AIM: Presentation of a new case of a patient with macro-GH, that may interfere with different GH assays leading to false-positive results in serum samples. CASE PRESENTATION: A 61-year-old female was referred with a pituitary ... -
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.
(2018-01-30)The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants ... -
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 ... -
Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.
(2017-11-15)Congenital hypopituitarism (CH) is characterized by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism (CHI) is a disorder of unregulated ... -
Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty.
(2024-01-29)Patients with congenital hypogonadism will encounter many health care professionals during their lives managing their health needs; from antenatal and infantile periods, through childhood and adolescence, into adult life ... -
Patient-reported outcomes of parenteral somatostatin analogue injections in 195 patients with acromegaly.
(2016-03)BACKGROUND: Long-acting somatostatin analogues delivered parenterally are the most widely used medical treatment in acromegaly. This patient-reported outcomes survey was designed to assess the impact of chronic injections ... -
Pituitary Carcinoma in a Patient with an SDHB Mutation.
(2017-12)We present the first case of pituitary carcinoma occurring in a patient with a succinate dehydrogenase subunit B (SDHB) mutation and history of paraganglioma. She was initially treated for a glomus tumour with external ... -
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 ... -
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 ... -
Tall stature and gigantism in adult patients with acromegaly.
(2024-03-02)OBJECTIVES: Increased height in patients with acromegaly could be a manifestation of growth hormone (GH) excess before epiphysis closure. The aim of this study was to evaluate the relationship between the height of adult ... -
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 ...