Browsing Centre for Endocrinology by Title
Now showing items 458-477 of 560
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SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause
(2020-05-08)Abstract SAT-224 from ENDO 2020 Abstracts Scheduled for the Annual Meeting of the Endocrine Society – March 28 – 31, 2020 - San Francisco, California (Cancelled). Background: Three patients with a syndrome of LH/HCG-activated ... -
SAT-546 Endoscopic Ultrasound-Guided Radiofrequency Ablation (EUS-RFA) as an Alternative to Adrenalectomy for the Treatment of Aldosterone-Producing Adenomas (APAs)
(2020-05-08)Abstract SAT-546 from ENDO 2020 Abstracts Scheduled for the Annual Meeting of the Endocrine Society – March 28 – 31, 2020 - San Francisco, California (Cancelled) -
SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability.
(Nature Research, 2023-12-07)Innervation of the hypothalamic median eminence by Gonadotropin-Releasing Hormone (GnRH) neurons is vital to ensure puberty onset and successful reproduction. However, the molecular and cellular mechanisms underlying median ... -
Sensitivity and specificity of the macimorelin test for diagnosis of AGHD.
(2020-12-01)OBJECTIVE: The macimorelin test is approved for the diagnosis of adult growth hormone deficiency (AGHD) based on its efficacy vs the insulin tolerance test (ITT). Macimorelin has a significant advantage over ITT in avoiding ... -
Serum inflammation-based scores in endocrine tumors.
(2021-04-10)CONTEXT: Serum inflammation-based scores reflect systemic inflammatory response and/or patients' nutritional status, and may predict clinical outcomes in cancer. While these are well-described and increasingly used in ... -
Sex-biased islet β cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males.
(2021-10-12)A heterozygous missense mutation of the islet β cell-enriched MAFA transcription factor (p.Ser64Phe [S64F]) is found in patients with adult-onset β cell dysfunction (diabetes or insulinomatosis), with men more prone to ... -
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.
(Oxford University Press, 2018-12-03)Context Multiple autosomal recessive genes have been etiologically linked to Primary Adrenal Insufficiency (PAI). Recently, SGPL1 gene mutations were recognized as causes of steroid-resistant nephrotic syndrome type 14 ... -
SGPL1 Missense Mutation in an Infant with Primary Adrenal Insufficiency (PAI), Congenital Nephrotic Syndrome, Primary Hypothyroidism and Gonadal Failure
(2018)Meeting abstract from 57th Annual ESPE Conference, Athens, Greece, 27 - 29 Sep 2018.