Endocrine Abstracts

We report a case of a 25 years old woman – with central transient hypoadrenalism after the right adrenalectomy for Cushing syndrome. She became pregnant 1 year after surgery while still taking a small dose of cortisol replacement therapy (5 mg Hydrocortisone) for partial recovery of her corticotrophic axis. Her pregnancy has been complicated by gestational diabetes, with good metabolic control under small doses of basal insulin. She increased her substitutive therapy at 2...

A 34 year old male diagnosed with congenital adrenal hyperplasia (21 hydroxylase deficiency, salt wasting variety) shortly after birth. Initial presentation was poor feeding with hypoglycemia, pigmented scrotum with elevated 17-OH progesterone. He had a right orchidopexy at age 9 for undescended testis. He was admitted multiple times with adrenal crises during his childhood. He went through puberty and achieved height of 177 cm which is 75th centile. His sister also has CAH. H...

57 year old with a low 0900 h cortisol (40 nmol/l) was referred for an urgent short Synacthen test (SST). Recently during a respiratory clinic visit, he had complained of feeling very tired but there were no other symptoms to suggest adrenal insufficiency. He had a background history of ABPA, Asthma and hypothyroidism. His current medications were Symbicort Inhaler, Vitamin D3, Levothyroxine, Montelukast and Itraconazole. He had been on Symbicort for over 2 years and his Itrac...

: 39Y old male who was originally treated as child with CAH secondary to 21-Hydroxylase deficiency and was put on glucocorticoids and mineralocorticoids from first week of life due to salt wasting crises. He has had very high 17-OH progesterone and adrenal androgen due to noncompliance. He developed polycythemia secondary to androgen excess, resulted in venesection. Haematologist have investigated the mutation and EPO measurement and he felt that this was probably secondary po...

: Lymphoma is one of the rare causes of bilateral adrenal gland enlargement that require a high index of suspicion for diagnosis. We present a case of 80-year-old lady referred by her GP for further evaluation after presenting with lower abdominal discomfort and weight loss for which she had a CT scan that revealed bilateral adrenal gland masses (60 HU) with the right adrenal gland measures 61 mm in diameter with distal ileal thickness and regional lymphadenopathy. She has no ...

Case history: Two Syrian refugee siblings aged 21 and 20 years, were referred. Ambiguous genitalia had been identified at birth and had been raised as males. They wished a more masculine habitus and had concerns regarding their fertility. The elder sibling had ambiguous genitalia at birth and a 46,XX karyotype. Long-term steroid treatment had been initiated and corrective genital surgery performed at 9 months of age. For unknown reasons, steroids were stopped after 9 years. He...

: A 78-year-old male with a background of renal cell carcinoma and bilateral adrenal metastasis presented with leg cramps and lethargy. He was on Prednisolone 10 mg od for immune therapy induced pneumonitis. Prior to commencing Prednisolone, he was on Dexamethasone 2 mg for 4 months for weight loss, nausea and vomiting. He underwent a Short Synacthen Test (SST) as his serum Na was low at 119 mmol/L (134–146). His SST showed a flat response with baseline and 30 minutes cor...

Background: Congenital adrenal hyperplasia (CAH) is one of the autosomal recessive disorders resulting from CYP 21(21-hydroxylase) deficiency. Testicular adrenal rest tumours (TARTs) are common in CAH, due to hypersecretion of ACTH. These lesions inside the testis are bilateral and multiple. TARTs may lead to structural damage and their tumours may be mistaken for Leydig cell tumour. Because of their locations; TART may cause seminiferous obstruction and infertility. History: ...

A series of 4 cases of delay in steroid treatment.1. 35 year male, brought in by ambulance, with drowsiness and vomiting. He was known T1DM on insulin pump, Addison’s disease on hydrocortisone. He has multiple admissions secondary to DKA. Initial assessment showed drowsiness, tachycardia, tachypnea, low saturations, hyperglycemia, ketosis and borderline acidosis. He was started on DKA protocol. His blood glucose and ketones started ...

A 37 year old lady presented to her GP with increasing lethergy, bloating and low mood associated with her menstrual periods. Her GP undertook a hormonal screen including androgen profile which revealed elevated 17-Hydroxyprogesterone 25.5 nmol/L (0.1–8.5). The rest of her androgen profile was normal. As a teenager she suffered with acne and hirsutism, for which she had laser therapy, but this had resolved. Periods were regular, every 28 days with 1–2 days menstruati...

Adrenal insufficiency is a potential life-threatening condition due to lack of cortisol and early diagnosis and management is potentially lifesaving. We describe a 79-year-old lady who presented to the emergency department with new onset confusion, nausea, vomiting and decreased oral intake. Her relatives also reported a one month history of lethargy and weakness. She suffered from gastro-oesophageal reflux for which she was taking Ranitidine, and had a history of total abdomi...

Our patient a 39yr old man was referred to endocrinology clinic. He described a history of being diagnosed with congenital adrenal hyperplasia after presenting with a salt wasting state at 6 weeks old. After living in Dublin as a child his family moved to Canada for 14yrs. At presentation he was taking hydrocortisone 10 mg twice daily and fludrocortisone 0.1 mg once daily. His main concern was fertility. He and his wife had been investigated in Canada. Information provided by ...

This was a 26 year old girl was referred for addisons disease. Her initial blood test showed low Na-123 with raised K-6. She complained feeling tired and lethargic for last 2 months. On examination, wt 108 kg, alopecia on the occipital scalp. Obese lady, CVS and respiratory system examination were normal. Her Short Synacthen test showed blunted response. She was immediately started on Hydrocortisone 10-5-5. Furhter bloods showed TSH-18, FT4-5.6, positive Anti TPO Ab, positive ...

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders characterised by enzyme defects in the steroidogenic pathways involved in the biosynthesis of cortisol, aldosterone and androgens. 21-hydroxylase deficiency accounts for more than 90% of cases.Case history: 41-yr-old female was referred to Endocrinology with a serum testosterone of 14.3 nmol/l (0.20–2.86). She was a full term baby born to non...

Case history: At 1 year follow-up post excision of invasive melanoma, a 63-year-old gentleman, with no other significant past medical history, was found to have CT evidence of metastatic disease. In the absence of a BRAF mutation, he was consented for combination immunotherapy with Ipilimumab (anti-CTLA4) and Nivolumab (anti-PD1). Monitoring bloods during cycle 2 of treatment revealed asymptomatic thyroiditis (TSH 0.03 miu/l, T4 35.5 pmol/l, T3 15.1 pmol/l), which did not requ...

This 31 year old patient was referred to the endocrinology department with a history of dizziness and fatigue. Past medical history identified that he had been diagnosed with congenital adrenal hyperplasia, presumed to be secondary to 21-hydroxylase deficiency, by 18 months of age whilst living abroad. He had been raised as a male but was found to have 46XX genotype with grade 5 virilisation. During childhood and early adolescence, he underwent multiple operations to remove Mu...