Biochemically normal adrenal pheochromocytoma following extensive central necrosis in a child with von Hippel-Lindau (VHL) gene mutation

Pheochromocytomas are rare in children. The diagnosis is usually established from a raised urinary or plasma catecholamine or their metabolites. We present a girl aged 11 years who manifested with a hypertensive crisis secondary to an adrenal tumour but with unexpectedly normal urinary metanephrine and catecholamine results. She improved spontaneously following the crisis and underwent surgery later. The histopathological study confirmed a pheochromocytoma with large central necrosis. Her genetic screening reported a pathogenic von Hippel-Lindau gene mutation. Surveillance scan postsurgery detected no other tumours. Following the catecholamine crisis, an acute infarct occurred, resulting in extensive tumour necrosis and subsequent rapid remission of symptoms and paradoxically normal biochemical markers. Although not unheard of in adults, we believe this is the first reported case of an extensive spontaneous necrosis resulting in a biochemically normal pheochromocytoma in a child.

Gynaecomastia in a male neutered cat with an adrenal tumour and associated hyperprogesteronism, hypercortisolism and hyperaldosteronism

Case summary A 7-year-old male neutered domestic longhair cat was presented with chronic progressive gynaecomastia, polydipsia, polyphagia, weight loss and poor fur regrowth. Sexualised behavioural changes were not reported and virilisation was not present on physical examination. Pertinent haematology, biochemistry and urinalysis findings at the time of referral included mild hypokalaemia. Left adrenomegaly and mild prostatomegaly were identified on a CT scan. Evaluation of adrenal hormones with a low-dose dexamethasone suppression test, serum progesterone, testosterone, oestradiol, plasma aldosterone, renin, plasma metanephrine and normetanephrine measurement supported a diagnosis of hyperprogesteronism, hyperaldosteronism and hypercortisolism. Adrenalectomy was performed and histopathology was consistent with an adrenocortical tumour. Clinical signs and hormone elevations resolved postoperatively. Relevance and novel information To our knowledge, this is the second report of gynaecomastia secondary to an adrenal tumour in a male neutered cat and the first associated with hyperprogesteronism.

ADRENAL ANGIOMYOLIPOMA: A SURGICAL RARITY

Adrenal Angiomyolipoma's are extremely rare forms of lipomatous tumours of adrenal gland. They may go undetected for years without symptoms. The patient may become symptomatic, once the tumour has gained a signicant size, mainly back pain. We are reporting our case which is a one of a kind benign Adrenal tumour. Adrenal Angiomylipomas are found as incidentalomas in patients, generally presenting with mild to no symptoms, leading to a long delay before they are diagnosed. However, early diagnosis is key, not only to alleviate symptoms but to also prevent a future surgical disaster due to rupture causing cardiovascular shock if large enough. Our patient presented with dull aching ank pain without any systemic symptoms. The diagnosis requires a multifocal approach to be conrmed including hormonal assay and radiological testing whereas following a “clinical only” approach maybe insufcient and often mislead a clinician from establishing an accurate diagnosis. These patients could be offered laparoscopic resection at specialized centres with minimal risk of complication and early uneventful recovery.

HOX genes promote cell proliferation and are potential therapeutic targets in adrenocortical tumours

Background Understanding the pathways that drive adrenocortical carcinoma (ACC) is essential to the development of more effective therapies. This study investigates the role of the transcription factor HOXB9 and other HOX factors in ACC and its treatment. Methods We used transgenic mouse models to determine the role of Hoxb9 in adrenal tumour development. Patient transcriptomic data was analysed for the expression of HOX genes and their association with disease. Drug response studies on various adrenocortical models were done to establish novel therapeutic options. Results Our human ACC dataset analyses showed high expression of HOXB9, and other HOX factors, are associated with poorer prognosis. Transgenic overexpression of Hoxb9 in the adrenal cortex of mice with activated Ctnnb1 led to larger adrenal tumours. This phenotype was preferentially observed in male mice and was characterised by more proliferating cells and an increase in the expression of cell cycle genes, including Ccne1. Adrenal tumour cells were found to be dependent on HOX function for survival and were sensitive to a specific peptide inhibitor. Conclusions These studies show Hoxb9 can promote adrenal tumour progression in a sex-dependent manner and have identified HOX factors as potential drug targets, leading to novel therapeutic approaches in ACC.

Primitive neuroectodermal tumour (PNET) of the renal capsule mimicking solid adrenal tumour

Primitive neuroectodermal tumour (PNET) of renal capsule is a rare entity. We report a case of a 17-year-old girl, who presented with symptoms of epigastric and right hypochondrium pain since 1 year. She was afebrile and physical examination revealed a soft, non-tender, firm, bimanually palpable and ballotable mass along right flank. Ultrasound abdomen showed a large heteroechoic mass in right suprarenal region with indistinct planes with upper pole of right kidney. On CT, a large right suprarenal mass was noted with origin likely from right adrenal gland. Surgery was done and intraoperatively, the large mass in right suprarenal region showed involvement of the upper pole of the right kidney. The right adrenal gland was small in size, compressed and displaced by the lesion. Histopathology revealed the mass to be PNET of kidney. We report the relevant imaging findings of the case with review of literature of this entity.

Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour

It is widely believed that adrenal tumours and ovarian luteomas in pregnant women cause virilisation of female foetuses through overproduction of testosterone and/or androstenedione. However, this notion raises a fundamental question as to how these classic androgens pass through the placenta without being converted by aromatase into oestrogens. Here, we report a case of maternal adrenal tumour, in which overproduction of 11-oxygenated C19 steroids (11ox C19s), newly characterised non-aromatisable androgens in humans, caused foetal virilisation. The female proband presented with severely virilised external genitalia at birth. The mother exhibited hirsutism, hyperglycaemia and hypertension and was diagnosed as having adrenal tumour. The mother was subjected to comprehensive steroid measurement. Serum levels of 11ox C19s were markedly elevated. In contrast, testosterone and androstenedione levels remained within the normal range, and levels of most other steroids in the conventional and backdoor androgenic pathways were normal or only mildly elevated. After tumour removal, levels of 11ox C19s were markedly reduced. These results provide the first evidence that 11ox C19s can be synthesised in adrenal adenomas and, due to their non-aromatisable nature, can pass through the placental barrier to cause foetal virilisation. These findings highlight a unique pathogenic property of these newly specified androgens in humans.

Retroperitoneal laparoscopic adrenalectomy: its role in the management of adrenal tumour and tertiary care centre experience

Background: Laparoscopic adrenalectomy for adrenal tumour has gained increased popularity worldwide. To decrease the complications of commonly used transperitoneal approach, by not entering into peritoneal cavity the retroperitoneal laparoscopic adrenalectomy (RLA) has developed. It has several advantages over the transperitoneal approach and associated with reduced morbidity and excellent outcome. The objective of this study was to report our experience with RLA for treatment of adrenal tumour.Methods: The study was done from August 2014 and December 2017, data of 44 patients who underwent RLA for adrenal tumour in the institute were retrospectively reviewed. Patient’s demographical, clinical, diagnostic and procedural data were recorded. All patients were assessed by history, physical examinations, laboratory values with biochemical marker test and imaging by computed tomography/magnetic resonance imaging. Treatment outcome was assessed in terms of operative time, haemoglobin drop, conversion rate, hospital stay and complications.Results: In 44 adrenalectomy, 24 men and 20 women, with a mean age of 47.0±8.9 years were enrolled. Mean body mass index was 23.5±2.2 kg/m2. Right adrenal tumour was seen in 26 cases and left in 18 cases. Mean adrenal mass size was 2.6±0.85 cm. Mean operative time was 109.1±21.16 minutes, mean haemoglobin drop was 0.47±0.26 gram/L. Conversion to open surgery was necessary in 2 patients. Mean postoperative hospital stay was 4.0±0.91 days. Recovery time mean value was 12.18±1.7 days postoperatively. In final histopathology result adenoma was most prevalent (25 cases) and myelolipoma was least (1 case). Conclusions: RLA appears to be safe and effective alternative to transperitoneal adrenalectomy for moderate size adrenal tumour in particular less than 6 cm. It is associated with less blood loss, shorter hospitalization, low conversion rate, fewer complications and early recovery. RLA offers an alternative method for treating adrenal tumour with improved surgical outcomes.