Browse
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia
Gold Coast Hospital and Health Service, Gold Coast, Cairns, Queensland, Australia
Search for other papers by R K Dharmaputra in
Google Scholar
PubMed
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia
Search for other papers by C M Piesse in
Google Scholar
PubMed
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia
Search for other papers by S Chaubey in
Google Scholar
PubMed
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia
Search for other papers by A K Sinha in
Google Scholar
PubMed
Department of Surgery, Cairns Hospital, Cairns, Queensland, Australia
Search for other papers by H C Chiam in
Google Scholar
PubMed
Summary
A 48-year-old Asian male, presented to the hospital for an elective total thyroidectomy in the context of 6.3 cm thyroid nodule. The fine needle aspiration cytology of the nodule confirmed papillary thyroid cancer (PTC) with some atypical histiocytes. He has a history of idiopathic arginine vasopressin deficiency (AVP-D) and has been taking oral DDAVP 100 µg daily, self-adjusting the dose based on thirst and polyuria. Additionally, he also has a history of recurrent spontaneous pneumothorax. His total thyroidectomy was aborted due to significant intraoperative bleeding, and his admission was further complicated by post-operative hyponatraemic seizure. Thyroid histology revealed the diagnosis of Langerhans cell histiocytosis (LCH), and further investigation with contrast CT demonstrated multi-organ involvement of the thyroid, lungs, and bones.
Learning points
-
Langerhans cell histiocytosis (LCH) is a condition that can affect one or more organ systems, including the pituitary, where it can present as AVP deficiency. Strict monitoring of fluid balance, as well as serial monitoring of serum sodium, is essential in all patients with AVP-D in the perioperative setting.
-
Iatrogenic hyponatraemic seizure is an uncommon but serious complication of DDAVP treatment in hospitalised patients with AVP-D. DDAVP dosing must be carefully monitored.
-
LCH with multisystem involvement is an important mimic for metastatic conditions, and histological diagnosis is essential to guide treatment and prognosis.
-
Although LCH without bone marrow involvement is unlikely to increase the risk of bleeding, its effect on tissue integrity may make surgery more challenging.
-
BRAF-V600E mutation is an important driver mutation and a potential therapeutic target in the treatment of LCH.
Search for other papers by Sabine Kleissl-Muir in
Google Scholar
PubMed
School of Nursing and Midwifery, Centre for Quality and Patient Safety, Institute for Health Transformation, Deakin University, Geelong, Victoria, Australia
The Centre for Quality and Patient Safety, Institute of Health Transformation -Western Health Partnership, Western Health, St Albans, Victoria, Australia
Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Faculty of Health Sciences, University of Southern Denmark and Steno Diabetes Centre, Odense M, Denmark
Search for other papers by Bodil Rasmussen in
Google Scholar
PubMed
Search for other papers by Alice Owen in
Google Scholar
PubMed
Search for other papers by Caryn Zinn in
Google Scholar
PubMed
School of Nursing and Midwifery, Centre for Quality and Patient Safety, Institute for Health Transformation, Deakin University, Geelong, Victoria, Australia
School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia
Department of Cardiology, Austin Health, Heidelberg, Victoria, Australia
Search for other papers by Andrea Driscoll in
Google Scholar
PubMed
Summary
In patients with diabetes mellitus, the toxic milieu caused by abnormal glucose and free fatty acid handling can lead to heart failure (HF). Referred to as diabetic cardiomyopathy (DMCM), this syndrome often exists in the absence of conventional risk factors for HF such as history of myocardial infarction or hypertension. Low-carbohydrate diets (LCDs) have recently been endorsed as an efficacious therapeutic dietary approach to prevent and reverse cardiometabolic disease including type 2 diabetes mellitus (T2DM). LCDs improve systemic insulin resistance (IR), reverses cardiac remodelling in a rodent model and downregulates the expression of sodium–glucose co-transporter 2 (SGLT2) receptors in the kidney. It is therefore conceivable that a lifestyle approach such as adopting an LCD can be offered to patients with DMCM. The reported case is that of a 45-year-old man with a 15-year history of non-ischaemic cardiomyopathy, T2DM and obesity. The patient volunteered to engage in a 16-week low-carbohydrate dietary intervention trial and then self-selected to remain on this diet for 1 year. The whole-food LCD was based on simple ‘traffic light’ style food lists and not designed to restrict calories, protein, fat or salt. After 1 year, the patient had lost 39 kg and his cardiometabolic markers had significantly improved. LCDs present a potentially beneficial approach for patients with DMCM and could be considered as a lifestyle intervention before SGLT2i therapy is commenced.
Learning points
-
Diabetic cardiomyopathy (DMCM) is a syndrome precipitated mainly by the detrimental effects of glucose metabolism disorders such as insulin resistance and diabetes.
-
Low-carbohydrate diets (LCD) mimic many effects of sodium–glucose co-transporter 2 inhibitors (SGLT2i).
-
LCDs are a dietary pattern which can have significant and beneficial effects on metabolic and anthropometric markers in patients with DMCM.
-
LCDs and SGLT2i therapy could be combined and may achieve better clinical outcomes for patients with DMCM.
-
Combination therapy may be carried out under close supervision as the real risk for diabetic ketoacidosis remains.
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia
School of Medicine, University of Western Australia, Nedlands, Western Australia, Australia
Search for other papers by Bronwyn G A Stuckey in
Google Scholar
PubMed
Search for other papers by James D Nolan in
Google Scholar
PubMed
Search for other papers by David M Hurley in
Google Scholar
PubMed
Search for other papers by Graeme B Martin in
Google Scholar
PubMed
Summary
A 33-year-old man with Kallmann syndrome had received pulsatile GnRH as an infant for the treatment of cryptorchidism. As an adult, his treatment for fertility with gonadotrophins was unusually rapid compared with expectations, with a total sperm count of 25 million after only 12 months of gonadotrophin therapy. We propose that pulsatile GnRH treatment as an infant induced minipuberty and facilitated his successful, rapid response to therapy. We also propose that identification of the absence of minipuberty in infants with clinical signs suggesting congenital hypogonadotrophic hypogonadism (CHH) is an opportunity for intervention with pulsatile GnRH yielding benefits for fertility decades later.
Learning points
-
Absence of minipuberty in males with CHH results in low Sertoli cell numbers and delayed response to induction of spermatogenesis in adulthood.
-
Presentation with 'red flags' for androgen deficiency including cryptorchidism at birth, with or without micropenis, should prompt screening for CHH and minipuberty by measurement of gonadotrophins and testosterone in the first 2 months after birth.
-
Pulsatile GnRH therapy in patients with CHH, given prior to age of attainment of Sertoli cell maturation, can replicate the normal physiology of minipuberty, thereby priming the testis for future fertility.
Search for other papers by Sue Sleiman in
Google Scholar
PubMed
Search for other papers by Feyrous Bacha in
Google Scholar
PubMed
ANZAC Research Institute, University of Sydney, Sydney, New South Wales, Australia
Search for other papers by David J Handelsman in
Google Scholar
PubMed
Summary
We report the successful delivery of a healthy baby after intracytoplasmic sperm injection (ICSI) with frozen-thawed autologous sperm, cryostored for 26 years, the longest successful autologous sperm cryostorage reported. Sperm was cryostored for a 15-year-old boy at the time of his cancer diagnosis. Semen samples were frozen with cryoprotectant, using a graduated vapour-phase nitrogen protocol. Straws were stored in a large vapour-phase nitrogen tank until transfer for use. The couple underwent a single ICSI–in vitro fertilisation procedure using the frozen-thawed sperm with a transfer of five fertilised embryos, resulting in the live birth of a healthy baby boy. This reinforces the importance of offering sperm cryopreservation to men who have not completed their family prior to gonadotoxic treatment for cancer or other diseases. As practical, low-cost fertility insurance, it should be offered to any young man who can collect semen and it provides essentially unlimited duration of fertility preservation.
Learning points
-
Gonadotoxic chemo or radiotherapy treatment for cancer or other diseases usually causes temporary or permanent male infertility.
-
Sperm cryostorage serves as a practical, low-cost insurance to facilitate future paternity.
-
All men who have not completed their families and are scheduled for gonadotoxic treatments should be offered sperm cryostorage.
-
There is no lower age limit for young men who can collect semen.
-
Sperm cryostorage offers essentially indefinite duration for the preservation of male fertility.
School of Medicine, Western Sydney University, Sydney, Australia
Search for other papers by Prishila Fookeerah in
Google Scholar
PubMed
School of Medicine, Western Sydney University, Sydney, Australia
Search for other papers by Mark McLean in
Google Scholar
PubMed
Summary
The anatomy of the pituitary fossa is complex. The wall of the fossa can vary, resulting in inconsistencies in the nature and integrity of the sella barrier. Cerebrospinal fluid is generally confined to the subarachnoid space and does not circulate freely in the pituitary fossa. Spontaneous haemorrhage in the fossa typically occurs in the context of pre-existing intrasellar pathology such as a pituitary adenoma. Extravasation of blood into the subarachnoid space can rarely be observed following pituitary apoplexy. We describe the unique occurrence of subarachnoid haemorrhage in a largely empty pituitary fossa after the rupture of a cerebral aneurysm.
Learning points
-
Pituitary apoplexy and subarachnoid haemorrhage (SAH) are both high in the differential diagnosis of sudden onset severe headaches.
-
Haemorrhagic pituitary apoplexy may result in extravasation into the subarachnoid space, resulting in typical SAH symptoms and signs.
-
This is the first reported case of primary SAH resulting in blood pooling in an empty sella arising from previous surgical resection of a large macroadenoma.
Search for other papers by Beryl Lin in
Google Scholar
PubMed
Sydney Medical School (Central), University of Sydney, Sydney, NSW, Australia
Search for other papers by Stephen M Twigg in
Google Scholar
PubMed
Summary
Functional hypogonadotropic hypogonadism is a relatively common condition in middle-aged to elderly men that can significantly impair quality of life. Besides lifestyle optimisation, androgen replacement remains the mainstay of treatment; however, its adverse effects on spermatogenesis and testicular atrophy are undesirable. Clomiphene citrate is a selective oestrogen receptor modulator that acts centrally to increase endogenous testosterone without affecting fertility. Although it has demonstrated effectiveness in shorter-duration studies, its longer-term outcomes are less well-documented. In this study, we report the case of a 42-year-old male with functional hypogonadotropic hypogonadism who sustained an excellent dose-dependent, titratable clinical and biochemical response to clomiphene citrate with no known adverse effects for 7 years to date. This case highlights that clomiphene citrate has potential as a safe and titratable longer-term treatment option, and the need for further randomised control trials in therapy options to normalise androgen status.
Learning points
-
Functional hypogonadotropic hypogonadism is a relatively common, but likely underdiagnosed, condition in middle-aged to older males.
-
Testosterone replacement is the current mainstay of endocrine therapy but can cause sub-fertility and testicular atrophy.
-
Clomiphene citrate is a serum oestrogen receptor modulator that acts centrally to increase endogenous testosterone production without affecting fertility.
-
It has potential as a safe and efficacious longer-term treatment option that can be titrated to increase testosterone and relieve clinical symptoms in a dose-dependent manner.
-
Longitudinal prospective studies as randomised control trials evaluating alternatives to exogenous testosterone are required.
Search for other papers by Bridget Cooper in
Google Scholar
PubMed
Search for other papers by Kenrick Blaker in
Google Scholar
PubMed
Search for other papers by Jerry R Greenfield in
Google Scholar
PubMed
Summary
We present a case of a 42-year-old man who developed acute onset severe hypertriglyceridaemia within days of commencing olanzapine therapy. Despite having a family history of metabolic syndrome, he had no personal history of hyperlipidaemia and had normal fasting lipids 1 week prior to treatment initiation. His case is consistent with a diagnosis of multifactorial chylomicronaemia syndrome with a possible undiagnosed underlying genetic lipid metabolism disorder. Our case highlights the difficulty in identifying patients at risk of severe hypertriglyceridaemia prior to the commencement of olanzapine.
Learning points
-
Atypical antipsychotic medications, in particular olanzapine and clozapine, are associated with metabolic side effects.
-
Olanzapine can precipitate acute onset severe hypertriglyceridaemia consistent with multifactorial chylomicronaemia syndrome.
-
It is difficult to predict individuals at risk of olanzapine-induced hypertriglyceridaemia.
-
This case demonstrates the importance of metabolic screening prior to the commencement of olanzapine and the possibility of repeating fasting serum lipids soon thereafter.
Search for other papers by Cody Harper in
Google Scholar
PubMed
Search for other papers by James Michael in
Google Scholar
PubMed
Search for other papers by Tarek Rahmeh in
Google Scholar
PubMed
Search for other papers by Vicki Munro in
Google Scholar
PubMed
Summary
The most common sites of distant metastases of papillary thyroid carcinoma (PTC) are lung and bone. Widespread distant metastases of PTC are rare and associated with poor overall prognosis. Metastases to sites such as liver and pancreas are extremely rare, and literature is sparse on overall survival. In this report, we present a 57-year-old man whose initial presentation of PTC was with pancreatic, liver, and lung metastases, and subsequently developed metastases to bone and brain. He underwent a total thyroidectomy, neck dissection, and tracheal resection. Pathology revealed a predominant columnar cell variant PTC with focal areas of tall cell variant, and genomic sequencing showed both PIK3CA and BRAF gene mutations. Radioactive iodine ablation with I-131 did not show any uptake in metastatic sites and he had progression of the metastases within 6 months. Therefore, therapy with lenvatinib was initiated for radioactive iodine refractory disease. Our patient has tolerated the lenvatinib well, and all his sites of metastases decreased in size. His liver and pancreatic lesions took longer to respond but showed response 6 months after initiation of lenvatinib, and he remains on full dose lenvatinib 18 months into treatment.
Learning points
-
Papillary thyroid carcinoma (PTC) usually metastasizes to lung and bone but can rarely occur in many other sites.
-
Patients with distant metastases have significantly worse long-term prognosis.
-
Lenvatinib can be an effective treatment of radioactive iodine refractory PTC with rare sites of distant metastases.
-
Lenvatinib can be an effective treatment of PTC with BRAF V600E and PIK3CA mutation.
Search for other papers by Jenny S W Yun in
Google Scholar
PubMed
Search for other papers by Chris McCormack in
Google Scholar
PubMed
Search for other papers by Michelle Goh in
Google Scholar
PubMed
University of Melbourne, Parkville, Victoria, Australia
Search for other papers by Cherie Chiang in
Google Scholar
PubMed
Summary
Acanthosis nigricans (AN) is a common dermatosis associated with hyperinsulinemia and insulin resistance. However, AN has been rarely reported in patients with insulinoma, a state of persistent hyperinsulinemia. We present a case of metastatic insulinoma, in whom AN manifested after the first cycle of peptide receptor radionuclide therapy (PRRT). A 40-year-old man was diagnosed with metastatic insulinoma after 5 months of symptomatic hypoglycemia. Within 1 month post PRRT, the patient became euglycemic but developed a pigmented, pruritic rash which was confirmed on biopsy as AN. We discuss the rare manifestation of AN in subjects with insulinoma, the role of insulin in the pathogenesis of AN, malignant AN in non-insulin-secreting malignancies and association with other insulin-resistant endocrinopathies such as acromegaly.
Learning points
-
Acanthosis nigricans (AN) is a common dermatosis which is typically asymptomatic and associated with the hyperinsulinemic state.
-
Malignant AN can rapidly spread, cause pruritus and affect mucosa and the oral cavity.
-
AN is extremely rare in patients with insulinoma despite marked hyperinsulinemia.
-
Peptide receptor radionuclide therapy might have triggered TGF-α secretion in this subject which led to malignant AN.
-
Rapid spread or unusual distribution of pruritic AN warrants further investigation to exclude underlying malignancy.
University of Adelaide, Adelaide, South Australia, Australia
Search for other papers by Annabelle G Hayes in
Google Scholar
PubMed
University of Adelaide, Adelaide, South Australia, Australia
Search for other papers by Mahesh M Umapathysivam in
Google Scholar
PubMed
University of Adelaide, Adelaide, South Australia, Australia
Search for other papers by David J Torpy in
Google Scholar
PubMed
Summary
Sulphonylureas are insulinotropic and are not only useful in patients with diabetes but also act in non-diabetic individuals where hypoglycaemia and hyperinsulinism mimic insulinoma. We present a 63-year-old man who presented with inadvertent sulphonylurea-induced life-threatening hypoglycaemia on two occasions, resulting in hazardous and invasive investigation. Biochemistry revealed endogenous hyperinsulinaemia, with elevated serum c-peptide and insulin concentrations during symptomatic hypoglycaemia, and plasma glucose of 1.7 mmol/L. There was no history of sulphonylurea use prompting anatomical insulinoma studies to locate an insulinoma. However, a routine plasma insulinoma screen-detected glimepiride. Directed history implicated a medication taken for erectile dysfunction prior to disturbed consciousness, with alcohol. The tablets, obtained online, were analysed by mass spectrometry and contained tadalafil and dapoxetine as advertised but also contained glimepiride.
Learning points
-
Symptomatic unexplained hypoglycaemia requires investigation with plasma glucose level, c-peptide, insulin level, pro-insulin, beta-hydroxybutyrate, and a sulphonylurea screen regardless of known exposure to sulphonylureas.
-
Consider contamination of alternative or undisclosed medication, including PDE-5 inhibitor erectile dysfunction drugs.
-
Concomitant alcohol may impair glycogenolysis and gluconeogenesis, exacerbating hypoglycaemia.
