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Sumeet Arora Department of Pediatrics, Division of Pediatric Endocrinology, Artemis Hospital, Gurgaon, Haryana, India

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Olga Yeliosof Division of Pediatric Endocrinology, Cohen Children’s Northwell Health, Staten Island, New York, USA

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Vivian L Chin Division of Pediatric Endocrinology, SUNY Downstate Health Sciences University, New York, USA

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Summary

Kallmann syndrome (KS) is a genetically heterogeneous condition characterized by hypogonadotropic hypogonadism with coexisting anosmia or hyposmia along with potential other phenotypic abnormalities depending on the specific genetic mutation involved. Several genetic mutations have been described to cause KS. The ANOS1 (KAL1) gene is responsible for 8% of mutations causing KS. A 17-year-old male presented to our clinic with delayed puberty and hyposmia, along with a family history suggestive of hypogonadism in his maternal uncle. Genetic testing for KS revealed complete exon 3 deletion in the ANOS1 gene. To the best of our knowledge, this specific mutation has not been previously described in the literature.

Learning points

  • Missense and frameshift mutations in the KAL1 or ANOS1 gene located in the X chromosome are responsible for 8% of all known genetic mutations of Kallmann syndrome.

  • Exon 3 deletion is one of the ANOS1 gene is a novel mutation, not reported before.

  • Targeted gene sequencing for hypogonadotropic hypogonadism can be employed based on the phenotypic presentation.

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Aditi Sharma Section of Investigative Medicine, Imperial College London, Hammersmith Hospital, London, UK

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Thilipan Thaventhiran Section of Investigative Medicine, Imperial College London, Hammersmith Hospital, London, UK

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Suzanne Braggins Department of Endocrinology and Diabetes, St Mary’s Hospital, Imperial College Healthcare NHS Trust, London, UK

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Channa N Jayasena Section of Investigative Medicine, Imperial College London, Hammersmith Hospital, London, UK

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Vassiliki Bravis Department of Endocrinology and Diabetes, St Mary’s Hospital, Imperial College Healthcare NHS Trust, London, UK

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Summary

Infection is a common complication of advanced diabetic foot disease, increasing the risk of acute admission and amputation. It is less well-known that foot ulceration and osteomyelitis may cause bacteraemia-associated hematogenous seeding and subsequent epidural abscess formation. Here we describe the case of a 57-year-old woman with known diabetic foot ulcer with underlying osteomyelitis admitted with backpain in the absence of trauma. Her condition deteriorated secondary to overwhelming sepsis. MRI of the spine confirmed spondylodiscitis and posterior epidural collection, not amenable to surgical intervention due to patient’s comorbidities and high surgical risk. Despite prolonged antibiotic therapy, the patient died following a hospital admission lasting 2.5 months. This case highlights the importance of regular contact with diabetes foot service for optimisation and prompt treatment of diabetic foot disease, which can be an underestimated potential source of remote site invasive systemic infection. Secondly, high clinical suspicion in admitting clinicians is imperative in ensuring timely diagnosis and early intervention to minimise fatal consequences.

Learning points:

  • Approximately 10% of patients with diabetes will develop a foot ulcer in their lifetime.

  • Spondylodiscitis (incorporating vertebral osteomyelitis, spondylitis and discitis) is a rare condition and diabetes is the most common predisposing risk factor.

  • Spondylodiscitis often presents with no other symptom other than back pain. Neurological or infective symptoms can be present or absent.

  • High clinical suspicion in clinicians is imperative in ensuring timely diagnosis and early intervention to minimise devastating consequences.

Open access
Peter Novodvorsky Department of Diabetes and Endocrinology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK

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Ziad Hussein Department of Diabetes and Endocrinology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK

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Muhammad Fahad Arshad Department of Diabetes and Endocrinology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK

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Ahmed Iqbal Department of Diabetes and Endocrinology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK

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Malee Fernando Department of Histopathology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK

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Alia Munir Department of Diabetes and Endocrinology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK

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Sabapathy P Balasubramanian Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK
Department of General Surgery, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK

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Summary

Spontaneous remission of primary hyperparathyroidism (PHPT) due to necrosis and haemorrhage of parathyroid adenoma, the so-called ‘parathyroid auto-infarction’ is a very rare, but previously described phenomenon. Patients usually undergo parathyroidectomy or remain under close clinical and biochemical surveillance. We report two cases of parathyroid auto-infarction diagnosed in the same tertiary centre; one managed surgically and the other conservatively up to the present time. Case #1 was a 51-year old man with PHPT (adjusted (adj.) calcium: 3.11 mmol/L (reference range (RR): 2.20–2.60 mmol/L), parathyroid hormone (PTH) 26.9 pmol/L (RR: 1.6–6.9 pmol/L) and urine calcium excretion consistent with PHPT) referred for parathyroidectomy. Repeat biochemistry 4 weeks later at the surgical clinic showed normal adj. calcium (2.43 mmol/L) and reduced PTH. Serial ultrasound imaging demonstrated reduction in size of the parathyroid lesion from 33 to 17 mm. Twenty months later, following recurrence of hypercalcaemia, he underwent neck exploration and resection of an enlarged right inferior parathyroid gland. Histology revealed increased fibrosis and haemosiderin deposits in the parathyroid lesion in keeping with auto-infarction. Case #2 was a 54-year-old lady admitted with severe hypercalcaemia (adj. calcium: 4.58 mmol/L, PTH 51.6 pmol/L (RR: 1.6–6.9 pmol/L)) and severe vitamin D deficiency. She was treated with intravenous fluids and pamidronate and 8 days later developed symptomatic hypocalcaemia (1.88 mmol/L) with dramatic decrease of PTH (17.6 pmol/L). MRI of the neck showed a 44 mm large cystic parathyroid lesion. To date, (18 months later), she has remained normocalcaemic.

Learning points:

  • Primary hyperparathyroidism (PHPT) is characterised by excess parathyroid hormone (PTH) secretion arising mostly from one or more autonomously functioning parathyroid adenomas (up to 85%), diffuse parathyroid hyperplasia (<15%) and in 1–2% of cases from parathyroid carcinoma.

  • PHPT and hypercalcaemia of malignancy, account for the majority of clinical presentations of hypercalcaemia.

  • Spontaneous remission of PHPT due to necrosis, haemorrhage and infarction of parathyroid adenoma, the so-called ‘parathyroid auto-infarction’, ‘auto-parathyroidectomy’ or ‘parathyroid apoplexy’ is a very rare in clinical practice but has been previously reported in the literature.

  • In most cases, patients with parathyroid auto-infarction undergo parathyroidectomy. Those who are managed conservatively need to remain under close clinical and biochemical surveillance long-term as in most cases PHPT recurs, sometimes several years after auto-infarction.

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Mallika Bhat Division of Endocrinology, Department of Medicine

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Matty Mozzor Department of Radiology

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Savneek Chugh Division of Nephrology, New York Medical College, Westchester Medical Center, Valhalla, New York, USA

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Vamsi Buddharaju Division of Nephrology, New York Medical College, Westchester Medical Center, Valhalla, New York, USA

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Monica Schwarcz Division of Endocrinology, Department of Medicine

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Guy Valiquette Division of Endocrinology, Department of Medicine

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Summary

We describe detailed administration of thyroidal and extrathyroidal doses of radioiodine to a patient with end-stage renal disease on hemodialysis. A thorough description of area under curve measurements in a patient with compromised renal function has rarely been described in the literature. Few publications have described thyroid cancer management of patients on hemodialysis, and we believe our management will aid in patient treatment in the future.

Learning points:

  • Scheduling of hemodialysis is important when administering radioactive iodine.

  • Treatment of thyroid cancer with radioiodine in patients with end-stage renal disease requires multidisciplinary approach coordinating dialysis, nuclear medicine and endocrinologists care.

  • Balancing ideal dosage of I131 and the timing of dialysis to insure maximal thyroidal uptake and minimal extra thyroidal I131 concentration is necessary.

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J Rajkanna Department of Endocrinology, Peterborough City Hospital, Bretton Gate, Peterborough, PE3 9GZ, UK

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S Tariq Department of Endocrinology, Peterborough City Hospital, Bretton Gate, Peterborough, PE3 9GZ, UK

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S O Oyibo Department of Endocrinology, Peterborough City Hospital, Bretton Gate, Peterborough, PE3 9GZ, UK

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Summary

Gonadotrophin therapy with human chorionic gonadotrophin and recombinant FSH is indicated for use in men with reduced spermatogenesis due to hypogonadotrophic hypogonadism (HH). Patients require regular monitoring for side effects and desired response to treatment. We present a man with HH, azoospermia and a history of previous anabolic steroid usage who had undergone gonadotrophin therapy, had subsequently achieved conception and has now fathered a child.

Learning points

  • In total, 15% of couples do not achieve pregnancy within 1 year and seek medical treatment for infertility: male factors contribute to 50% of these.

  • The evaluation of male infertility should include a full history and examination, an endocrine profile and a quality-controlled semen analysis.

  • HH with defective spermatogenesis is an important cause of male infertility in a small percentage of cases.

  • Gonadotrophin therapy requires regular monitoring for side effects and desired response to treatment.

  • Any sustained rise in prostate specific antigen levels should prompt urological assessment for possible prostate biopsy.

  • A multidisciplinary approach is required for gonadotrophin therapy, especially if assisted fertilisation techniques are required once, spermatogenesis is achieved.

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Ravi Kumar Menon Department of Endocrinology, University College Hospital NHS Foundation Trust, NW1 2PG London, UK

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Francesco Ferrau Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, EC1A 7BE London, UK

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Tom R Kurzawinski Department of Endocrine Surgery, University College Hospital NHS Foundation Trust, NW1 2PG London, UK

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Gill Rumsby Department of Clinical Biochemistry, University College Hospital NHS Foundation Trust, NW1 2PG London, UK

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Alexander Freeman Department of Pathology, University College Hospital NHS Foundation Trust, NW1 2PG London, UK

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Zahir Amin Department of Radiology, University College Hospital NHS Foundation Trust, NW1 2PG London, UK

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Márta Korbonits Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, EC1A 7BE London, UK

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Teng-Teng L L Chung Department of Endocrinology, University College Hospital NHS Foundation Trust, NW1 2PG London, UK

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Summary

Adrenal cortical carcinoma (ACC) has previously only been reported in eight patients with type 1 neurofibromatosis (NF1). There has not been any clear evidence of a causal association between NF1 gene mutations and adrenocortical malignancy development. We report the case of a 49-year-old female, with no family history of endocrinopathy, who was diagnosed with ACC on the background of NF1, due to a novel germline frame shift mutation (c.5452_5453delAT) in exon 37 of the NF1 gene. A left adrenal mass was detected by ultrasound and characterised by contrast computerised tomography (CT) scan. Biochemical tests showed mild hypercortisolism and androgen excess. A 24-h urinary steroid profile and 18flouro deoxy glucose PET suggested ACC. An open adrenalectomy was performed and histology confirmed ACC. This is the first reported case with DNA analysis, which demonstrated the loss of heterozygosity (LOH) at the NF1 locus in the adrenal cancer, supporting the hypothesis of an involvement of the NF1 gene in the pathogenesis of ACC. LOH analysis of the tumour suggests that the loss of neurofibromin in the adrenal cells may lead to tumour formation.

Learning points

  • ACC is rare but should be considered in a patient with NF1 and adrenal mass when plasma metanephrines are normal.

  • Urinary steroid metabolites and PET/CT are helpful in supporting evidence for ACC.

  • The LOH at the NF1 region of the adrenal tumour supports the role of loss of neurofibromin in the development of ACC.

Open access