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Sarah N Parry Department of Endocrinology, Royal Prince Alfred Hospital, Sydney, Australia
Faculty of Medicine and Health, The University of Sydney, Sydney, Australia

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Namson S Lau Metabolism & Obesity Services, Royal Prince Alfred Hospital, Sydney, Australia
Liverpool Diabetes Collaboration, Ingham Institute of Applied Medical Research, Sydney, Australia
South West Clinical School, University of New South Wales, Sydney, Australia

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Summary

Approximately 80% of adrenal incidentalomas are benign, and development into adrenal cortical cancer is extremely rare. This is a major reason behind clinical guidelines recommending surveillance of incidentalomas for a relatively short duration of up to 5 years. Surveillance of lesions less than 1 cm is not routinely recommended. A 70-year-old lady was diagnosed with a non-hyperfunctioning 8 mm right adrenal lesion. She underwent annual biochemical and radiological assessment for 5 years before surveillance was extended to 2-yearly intervals. The lesion was stable in size, and radiological characteristics were consistent with a benign adenoma. Seven years after the initial detection of the adrenal lesion, she developed acute abdominal pain. Imaging revealed a 7 cm right adrenal lesion, which was surgically resected and histologically confirmed to be adrenal cortical cancer. She died 1 year later. Clinical guidelines have moved towards a shortened duration of surveillance of incidentalomas. Even though malignant transformation is a rare event, it is possible that this will result in a delayed diagnosis of adrenal cortical cancer, a highly aggressive malignancy with a poor prognosis. To our knowledge, this is the first published case of an adrenal lesion of less than 1 cm developing into adrenal cortical cancer.

Learning points

  • Adrenal incidentalomas are increasingly common.

  • Clinical practice guidelines exist to aid in differentiating benign and malignant lesions and assessing functional status.

  • Transformation of adrenal incidentalomas to adrenal cortical carcinomas is a rare but recognised event.

Open access
Lauren T Tyack Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, Australia

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Bronwyn G A Stuckey Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, Australia
Keogh Institute for Medical Research, Nedlands, WA, Australia
Medical School, University of Western Australia, Nedlands, WA, Australia

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John P Walsh Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, Australia
Medical School, University of Western Australia, Nedlands, WA, Australia

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Summary

We report a case of catamenial erythema multiforme major in a 46-year-old female. She was treated successfully with goserelin, a GnRH agonist, until the expected age of menopause; however, its therapeutic effects persisted for longer than expected, possibly due to accumulation in adipose tissue.

Learning points

  • A group of menstrual cycle-related dermatoses and hypersensitivity syndromes exist but are rarely reported in the literature.

  • A history of recurrent cutaneous eruptions in premenopausal females should be considered in the context of the menstrual cycle.

  • The diagnosis of menstrual cycle-related dermatoses is largely clinical, although provocation testing can assist.

  • Treatment options are broad and are aimed at reducing the immune response and/or suppressing ovulation.

  • Goserelin may accumulate and have a gonadotrophin-suppressing effect for longer than expected.

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Kimberly Voon Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, Australia

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Bronwyn G A Stuckey Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, Australia
Keogh Institute for Medical Research, Nedlands, WA, Australia
School of Medicine, University of Western Australia, Nedlands, WA, Australia

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Summary

With rising rates of adoption and surrogacy, induced lactation is likely to become increasingly relevant, allowing women who did not undergo pregnancy to breastfeed. We describe the case of a woman with complete androgen insensitivity syndrome (CAIS) on conventional oestrogen therapy who was expecting a child via surrogacy and who wished to breastfeed. The woman was commenced on supplementary oestrogen therapy, domperidone and breast stimulation by mechanical breast pump 8 weeks prior to the delivery of her child. Following delivery, the patient produced a small, unquantified amount of milk, allowing her to suckle the infant for a short period of time. Induced lactation is possible in chromosomally XY individuals. It has been most successful in cis-women and transwomen, both of whom have had progesterone/progestogen exposure to the breast. We suggest that the addition of a progestogen to our patient’s treatment regimen, either as part of her original hormone therapy or part of the lactation induction program, would have improved her changes of establishing successful lactation.

Learning points

  • Induced lactation is possible in chromosomally XY individuals with the use of pharmacological and non-pharmacological therapies.

  • There are no standardised guidelines regarding the optimal regimen for induced lactation.

  • Progesterone exposure to the breast is essential for ductal branching and alveolar maturation.

  • In the published literature, induced lactation is more successful in transwomen and other XY individuals who have had prior progesterone exposure.

  • The addition of progestogen to our patient’s treatment regimen would have improved her chances of establishing successful lactation.

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Sabine Kleissl-Muir Deakin University School of Nursing and Midwifery, Geelong, Victoria, Australia

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Bodil Rasmussen Deakin University School of Nursing and Midwifery, Geelong, Victoria, Australia
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

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Alice Owen School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia

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Caryn Zinn Human Potential Centre, Faculty of Health and Environmental Sciences, Auckland University of Technology, Auckland, New Zealand

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Andrea Driscoll Deakin University School of Nursing and Midwifery, Geelong, Victoria, Australia
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

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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.

Open access
Bronwyn G A Stuckey Keogh Institute for Medical Research, Nedlands, Western Australia, Australia
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia
School of Medicine, University of Western Australia, Nedlands, Western Australia, Australia

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James D Nolan Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia

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David M Hurley Department of Endocrinology and Diabetes, Royal Perth Hospital, Perth, Western Australia, Australia

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Graeme B Martin School of Agriculture and Environment, University of Western Australia, Nedlands, Western Australia, Australia

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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.

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Sue Sleiman Clinical Andrology Laboratory, NSW Health Pathology, Concord Hospital, Sydney, New South Wales, Australia

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Feyrous Bacha Clinical Andrology Laboratory, NSW Health Pathology, Concord Hospital, Sydney, New South Wales, Australia

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David J Handelsman Clinical Andrology Laboratory, NSW Health Pathology, Concord Hospital, Sydney, New South Wales, Australia
ANZAC Research Institute, University of Sydney, Sydney, New South Wales, Australia

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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.

Open access
Mawson Wang Department of Endocrinology and Metabolism, Concord Hospital, Sydney, Australia

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Markus J Seibel Department of Endocrinology and Metabolism, Concord Hospital, Sydney, Australia
Concord Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, Australia

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Summary

We report the case of a 69-year-old female with systemic mastocytosis, diagnosed based on widespread pigmented papules and macules, elevated serum tryptase levels and confirmatory skin and bone marrow biopsy, on a background of osteoporosis. A CT demonstrated multiple sclerotic lesions within lumbar vertebral bodies, sacrum and ileum, with surrounding osteolysis but no obvious compression fractures. She was treated with the RANK-L inhibitor denosumab, resulting in significant bone mineral density gain over the following 5 years. However, her serum tryptase levels gradually increased during this period despite treatment with the multikinase inhibitor, midostaurin. It is thus conceivable that her rapid increase in bone mineral density may be partly contributed by a predominance of pro-osteoblastic mediators released by abnormal mast cells, suggestive of more advanced disease. This case highlights the complexities of systemic mastocytosis-related bone disease and the interplay of numerous mediators contributing to a phenotype of both increased bone resorption and formation.

Learning points

  • Systemic mastocytosis is a neoplastic disease of mast cells characterized by abnormal proliferation and accumulation in the skin and other organs. It is most frequently associated with the somatic gain-of-function KIT D816V mutation.

  • Systemic mastocytosis should be suspected in patients presenting with not only cutaneous symptoms suggestive of mast cell degranulation such as anaphylaxis, flushing or urticaria but also unexplained osteoporosis and gastrointestinal and constitutional symptoms.

  • The prevalence of osteoporosis in systemic mastocytosis is high. Mast cell activation leads to the secretion of numerous chemical mediators which either promote or inhibit osteoclastic and/or osteoblastic activity, with the balance usually in favour of increased bone resorption. However, in advanced diseases with high mast cell burden, mast-cell-derived cytokines and mediators may promote osteoblastic activity, leading to osteosclerosis and apparent increases in bone mineral density.

  • Treatment of osteoporosis in systemic mastocytosis involves antiresorptive therapy with bisphosphonates and more recently, denosumab. There are limited data on the role of osteoanabolic agents.

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Prishila Fookeerah Department of Diabetes and Endocrinology, Westmead Hospital, Sydney, Australia
School of Medicine, Western Sydney University, Sydney, Australia

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Mark McLean Department of Diabetes and Endocrinology, Westmead Hospital, Sydney, Australia
School of Medicine, Western Sydney University, Sydney, Australia

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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.

Open access
Beryl Lin Department of Endocrinology, Royal Prince Alfred Hospital, Sydney, NSW, Australia

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Stephen M Twigg Department of Endocrinology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
Sydney Medical School (Central), University of Sydney, Sydney, NSW, Australia

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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.

Open access
Chelsea Tan Bendigo Health, Victoria, Australia

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Jessica Triay Bendigo Health, Victoria, Australia

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Summary

A 64-year-old man with progressive metastatic castrate-resistant prostate adenocarcinoma presented with recurrent fluid overload, severe hypokalaemia with metabolic alkalosis and loss of glycaemic control. Clinical features were facial plethora, skin bruising and proximal myopathy. Plasma adrenocorticotrophic hormone (ACTH), serum cortisol and 24-h urinary cortisol levels were elevated. Low-dose dexamethasone failed to suppress cortisol. Pituitary MRI was normal and 68Gallium-DOTATATE PET–CT scan showed only features of metastatic prostate cancer. He was diagnosed with ectopic ACTH syndrome secondary to treatment-related neuroendocrine prostate cancer differentiation. Medical management was limited by clinical deterioration, accessibility of medications and cancer progression. Ketoconazole and cabergoline were utilised, but cortisol remained uncontrolled. He succumbed 5 months following diagnosis. Treatment-related neuroendocrine differentiation of prostate adenocarcinoma is a rare cause of ectopic ACTH syndrome.

Learning points

  • Neuroendocrine differentiation following prostate adenocarcinoma treatment with androgen deprivation has been described.

  • Ectopic adrenocorticotrophic hormone (ACTH) syndrome should be considered where patients with metastatic prostate cancer develop acute electrolyte disturbance or fluid overload.

  • Ketoconazole interferes with adrenal and gonadal steroidogenesis and can be used in ectopic ACTH syndrome, but the impact may be insufficient. Inhibition of gonadal steroidogenesis is favourable in prostate cancer.