Endocrine Abstracts

We report a case of a female patient who initially presented aged 35 yr with shortness of breath and type 2 respiratory failure at 12 weeks of her pregnancy. She was previously known to have a multinodular goitre under another hospital, which had been stable for several years, and had no other medical problems. Clinically and biochemically she was euthyroid (free T4 12.6 pmol/L [11.0–23.3], TSH 0.42 mu/L) and there were no signs of obstruction. An ultrasound scan showed a...

We report a case of a female patient who presented aged 37yr with tiredness, weight gain and oligomenorrhea. Biochemically she was diagnosed with primary hypothyroidism with a TSH 10.9 mu/L and free-T4 8.2 pmol/L (10.5–22.0); she was commenced onto Thyroxine 50 mcg once a day (OD). Six months later her thyroid function tests improved with a TSH 2.2 mu/L and free-T4 13.0 pmol/L, however she felt her symptoms had worsened. The dose of thyroxine was increased to 75 mcg OD. ...

We report a case of a 27 yr female patient who initially presented with jaundice at 38 weeks gestation, with biochemical transaminitis. She had a caesarean section which was complicated postoperatively by hypotension due to haemorrhage requiring 20 units of blood/blood-products. A specialist liver unit felt the jaundice was secondary to fatty liver of pregnancy. She had difficulty breastfeeding and 18 months post partum she still had secondary amenorrhea so was commenced onto ...

Pituitary adenomas are benign tumours, which do not involve mutations in tumour suppressor genes or oncogenes. We have shown that the canonical Raf/MAPK and PI(3)K/Akt pathways are over-activated in these tumours, but their downstream effectors are modified to a much lesser extent. It is probable that the oncogenic mutations responsible for the initiation of these tumours therefore lies proximal to the convergence of these pathways, at or even upstream to the growth factor rec...

20% of cases of FIPA have AIP gene mutations. These adenomas are often large and invasive. Our index case presented aged 13 with pituitary apoplexy. Histology showed necrotic tissue. He continued to grow and was 195 cm 4 y later. GH excess was confirmed. After treatment with octreotide and radiotherapy remission was achieved. His first cousin had also been successfully treated for acromegaly. This led to the original familial diagnosis. Subsequently, the c.910C>T, p.R304X ...

Background: Abnormal microRNAs (miRNAs) expression profiles have been recently associated with sporadic pituitary adenomas, suggesting that miRNAs can contribute to tumor formation. miRNAs are small noncoding RNAs which inhibit post-transcriptional expression of target mRNAs by binding to complementary sequences usually located in the 3′ untranslated region (3′UTR). However, the substantial lack of knowledge about miRNAs’ targets hinder full understanding of t...

Background: Recently, germline mutations in the aryl-hydrocarbon-receptor-interacting-protein (AIP) gene have been found to occur in familial and sometimes in early onset sporadic somatotroph adenomas. These tumours tend to respond less well to somatostatin analogues (SSA). It has been shown previously that AIP can upregulate the transcription factor Zac1 in liver cells, and we were able to also demonstrate this in pituitary cells. On the other hand, Zac1 is upregulated in res...

Background: Pituitary adenomas are relatively common in the general population, but the pathogenesis of these tumours remains largely unknown. Recently, germline mutations have been described in the AIP (aryl hydrocarbon receptor interacting protein) gene in several patients with familial isolated pituitary adenomas (FIPA). This gene is located on chromosome 11q13 and loss of heterozygosity at this locus as well as functional data from our group demonstrates a tumour suppresso...

Background: Pituitary adenomas usually occur as sporadic tumours, but familial cases are increasingly identified. Patients of 15–40% with familial-isolated-pituitary-adenoma (FIPA) harbour germline mutations in the aryl-hydrocarbon receptor interacting gene (AIP). AIP is thought to act as a tumour suppressor gene, with loss of heterozygosity shown in pituitary tumour samples at the 11q13 locus, where AIP is located. Previously we have shown AIP has properties consistent w...

Background: Recently mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene have been found to occur in familial and sporadic somatotroph adenomas. These tumours tend to respond less well to somatostatin analogues, are diagnosed at an earlier age and behave more aggressively. AIP is expressed in sporadic somatotroph adenomas (Leontiou, JCEM, 2008).Aim: To evaluate the change in AIP immunostaining in sporadic acromegaly patients treated...