Endocrine Abstracts

MEN4 is a rare disease characterized by the development of multiple endocrine tumors caused by mutations in the CDKN1b gene encoding the cyclin dependent kinase inhibitor P27Kip1. Here we report two new cases and address the potential link of MEN4 with autoimmunity. The 1st patient, a 66-year old woman, presented at 35 years high prolactin levels without evidence of pituitary adenoma, treated medically. At 51 years, she was diagnosed with mild primary hyper...

Background: FHH is a genetically heterogeneous condition mimicking primary hyperparathyroidism at the difference of low urine calcium excretion. FHH types 1, 2, and 3 are due to loss-of-function mutations of the CASR, GNA11, or AP2S1 genes, respectively. FFH 3, the rarest of the 3, is usually associated to 3 recurrent mutations affecting the arginine residue in position 15. The clinical phenotype has not been well described. We report a new case striking by the neurological in...

Introduction: Biochemical follow up of the ovarian function after ovarian stimulation is restricted to the measurement of serum oestradiol and progesterone. We aim to investigate the entire ovarian steroidognesis after ovarian stimulation.Materials and methods: 50 women (26 IVF and 24 ICSI) who underwent AMP induction (based on rFSH stimulation after GnRH agonist or antagonist) for the same cause of infertility were retrospectively involved and compared ...

The performance of late-night salivary cortisol (LNSC) and optimal number of samples to accurately diagnose post-operative recurrence of Cushing’s disease (CD) at an early-stage are unknown. We performed a retrospective analysis in a single tertiary-care center to compare the accuracy of multiple salivary sampling strategies to diagnose early-stage recurrences of CD. 36 patients in remission of CD after surgery were followed up for 69.2±10.6 mo with multiple successi...

Background: Parathyroid hormone (PTH) assay is critical for diagnosis of calcium disorders and intraoperative (IO) monitoring of parathyroid surgery. We evaluated the new Access® Intact PTH (iPTH) on the UniCel® DxI 800 (Beckman Coulter).Methods: Imprecision was evaluated for routine and intraoperative (15 min) procedures, at 3 control levels, run 20 times in duplicate over 10 days (NCCLS EP5-A protocol). Normal values wer...

Background: Nearly 1 in 3 of UK children are overweight or have obesity. Obesity is associated with a higher risk of physical, psychological, and social ill-health yet doctors often do not initiate a conversation with parents about weight when a child has obesity. Studies have shown that doctors frequently fail to address childhood obesity with families in general paediatric outpatient clinics. Doctors report fear of upsetting parents. Parental views on this are largely unexpl...

Background: A mutation in POMC in retriever dogs prevents production of the POMC-derived peptides β-MSH and β-endorphin but not α-MSH and is associated with weight, adiposity and owner-reported food motivation (Raffan et al, 2016). Melanocortin signalling is central to the control of energy homeostasis but the relative contribution of the POMC derived neuropeptides is not well understood because rodents produce only α-MSH whereas humans, like dogs,...

Background: Multiple unmet needs of patients diagnosed with a neuroendocrine tumor (NET) have been described in the literature, especially informational and psychological needs. A multidisciplinary approach has been suggested to improve overall care of NET patients. Trained patient advisors (PA) could complement the healthcare team, by providing a personalized accompaniment to patients based on their experiential knowledge, therefore helping to bridge this current gap. The aim...

Hyperthyroidism is rarely associated with malignancy. Some cases of co-existing between hyperthyroidism and thyroid carcinoma have been described. We report a case of association of a toxic thyroid nodule and papillary microcarcinoma.Observation: A 50-year-old male was referred to the endocrinologist for hyperthyroidism (TSH: 0.01 mUI/l, FT4: 22.8 pmol/l, FT3: 17.1 pmol/l). Thyroid ultrasonography showed a nodule of 38 mm in the left lobe. 99 mTc thyroid...

Background: While psychiatric disturbances are well-documented manifestations of hypothyroidism, initiation of levothyroxine (LT4) therapy can also present in a similar manner.Case: A 34-year-old Filipino with Hashimoto’s thyroiditis consulted for signs and symptoms of hypothyroidism. Thyroid function tests were severely deranged, and an electrocardiogram revealed high grade atrioventricular block. Twenty-four hours after a full replaceme...