scholarly journals Hypertension due to a deoxycorticosterone-secreting adrenal tumour diagnosed during pregnancy

2019 ◽  
Vol 2019 ◽  
Author(s):  
Pedro Marques ◽  
Nicola Tufton ◽  
Satya Bhattacharya ◽  
Mark Caulfield ◽  
Scott A Akker
Keyword(s):  
Adrenal Mass ◽  
List Type ◽  
Third Trimester ◽  
Adrenal Tumours ◽  
Adrenocortical Tumours ◽  
Apparent Mineralocorticoid Excess ◽  
Increased Activity ◽  
Reduced Activity ◽  
Learning Points

Summary Mineralocorticoid hypertension is most often caused by autonomous overproduction of aldosterone, but excess of other mineralocorticoid precursors can lead to a similar presentation. 11-Deoxycorticosterone (DOC) excess, which can occur in 11-β hydroxylase or 17-α hydroxylase deficiencies, in DOC-producing adrenocortical tumours or in patients taking 11-β hydroxylase inhibitors, may cause mineralocorticoid hypertension. We report a 35-year-old woman who in the third trimester of pregnancy was found to have a large adrenal mass on routine obstetric ultrasound. On referral to our unit, persistent hypertension and long-standing hypokalaemia was noted, despite good compliance with multiple antihypertensives. Ten years earlier, she had hypertension noted in pregnancy which had persisted after delivery. A MRI scan confirmed the presence of a 12 cm adrenal mass and biochemistry revealed high levels of DOC and low/normal renin, aldosterone and dehydroepiandrosterone, with normal catecholamine levels. The patient was treated with antihypertensives until obstetric delivery, following which she underwent an adrenalectomy. Histology confirmed a large adrenal cortical neoplasm of uncertain malignant potential. Postoperatively, blood pressure and serum potassium normalised, and the antihypertensive medication was stopped. Over 10 years of follow-up, she remains asymptomatic with normal DOC measurements. This case should alert clinicians to the possibility of a diagnosis of a DOC-producing adrenal tumours in patients with adrenal nodules and apparent mineralocorticoid hypertension in the presence of low or normal levels of aldosterone. The associated diagnostic and management challenges are discussed. Learning points: Hypermineralocorticoidism is characterised by hypertension, volume expansion and hypokalaemic alkalosis and is most commonly due to overproduction of aldosterone. However, excess of other mineralocorticoid products, such as DOC, lead to the same syndrome but with normal or low aldosterone levels. The differential diagnosis of resistant hypertension with low renin and low/normal aldosterone includes congenital adrenal hyperplasia, syndrome of apparent mineralocorticoid excess, Cushing’s syndrome, Liddle’s syndrome and 11-deoxycorticosterone-producing tumours. DOC is one intermediate product in the mineralocorticoid synthesis with weaker activity than aldosterone. However, marked DOC excess seen in 11-β hydroxylase or 17-α hydroxylase deficiencies in DOC-producing adrenocortical tumours or in patients taking 11-β hydroxylase inhibitors, may cause mineralocorticoid hypertension. Excessive production of DOC in adrenocortical tumours has been attributed to reduced activity of the enzymes 11-β hydroxylase and 17-α hydroxylase and increased activity of 21-α hydroxylase. The diagnosis of DOC-producing adrenal tumours is challenging because of its rarity and poor availability of DOC laboratory assays.

scholarly journals Phaeochromocytoma presenting with polyuria: an uncommon presentation of a rare tumour

2014 ◽  
Vol 2014 ◽  
Author(s):  
N Atapattu ◽  
K A C P Imalke ◽  
M Madarasinghe ◽  
A Lamahewage ◽  
K S H de Silva
Keyword(s):  
Correct Diagnosis ◽  
List Type ◽  
Rare Tumour ◽  
Uncommon Presentation ◽  
The Family ◽  
History Of ◽  
Associated Conditions ◽  
Complete Physical Examination ◽  
Learning Points

Summary Children rarely present with phaeochromocytoma. Their presentation differs from that of adults. The classic triad of sweating, headache and palpitation may not always present in children with phaeochromocytoma. In this study, we present a 6-year-old girl who came to us with polyuria and polydipsia for evaluation of suspected diabetes insipidus. She gave a clear history of increased sweating in the recent past. On clinical examination, she was noted to have high blood pressure. Subsequent investigations revealed a phaeochromocytoma. Her polyuria and hypertension resolved immediately after the surgery. We did not have the facilities to arrange for genetic tests; however, the patient and the family members are under follow-up for other associated conditions. Learning points Polyuria and polydipsia are rare symptoms of phaeochromocytoma. Complete physical examination prevented unnecessary investigations for polyuria and led to a correct diagnosis. Classic features are not always necessary for diagnostic evaluation of rare diseases.

scholarly journals Late presentation of acromegaly in medically controlled prolactinoma patients

2016 ◽  
Vol 2016 ◽  
Author(s):  
Ekaterina Manuylova ◽  
Laura M Calvi ◽  
Catherine Hastings ◽  
G Edward Vates ◽  
Mahlon D Johnson ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Dopamine Agonists ◽  
Late Presentation ◽  
List Type ◽  
Biochemical Control ◽  
Current Recommendation ◽  
Long Term Follow Up ◽  
Learning Points

Summary Co-secretion of growth hormone (GH) and prolactin (PRL) from a single pituitary adenoma is common. In fact, up to 25% of patients with acromegaly may have PRL co-secretion. The prevalence of acromegaly among patients with a newly diagnosed prolactinoma is unknown. Given the possibility of mixed GH and PRL co-secretion, the current recommendation is to obtain an insulin-like growth factor-1 (IGF-1) in patients with prolactinoma at the initial diagnosis. Long-term follow-up of IGF-1 is not routinely done. Here, we report two cases of well-controlled prolactinoma on dopamine agonists with the development of acromegaly 10–20 years after the initial diagnoses. In both patients, a mixed PRL/GH-cosecreting adenoma was confirmed on the pathology examination after transsphenoidal surgery (TSS). Therefore, periodic routine measurements of IGF-1 should be considered regardless of the duration and biochemical control of prolactinoma. Learning points: Acromegaly can develop in patients with well-controlled prolactinoma on dopamine agonists. The interval between prolactinoma and acromegaly diagnoses can be several decades. Periodic screening of patients with prolactinoma for growth hormone excess should be considered and can 
lead to an early diagnosis of acromegaly before the development of complications.

scholarly journals A rare ophthalmic condition associated with primary hyperparathyroidism (PHPT): sclerochoroidal calcification (SC)

2019 ◽  
Vol 2019 ◽  
Author(s):  
Mona Abouzaid ◽  
Ahmed Al-Sharefi ◽  
Satish Artham ◽  
Ibrahim Masri ◽  
Ajay Kotagiri ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Observational Studies ◽  
Systemic Disease ◽  
List Type ◽  
Long Term Follow Up ◽  
Eye Examination ◽  
Learning Points ◽  
True Association

Summary An 82-year-old male with a proven diagnosis of primary hyperparathyroidism (PHPT) was found to have bilateral changes in the fundi during a routine eye examination which were consistent with SC. In this report, we discuss the link between SC and PHPT and question the need for prospective observational studies to establish the true association between these conditions. Though screening PHPT patients for SC might not be justified/warranted given the benign course of the latter, patients with SC need to be assessed for PHPT, as the former may be the first clue to an underlying treatable systemic disease. Learning points: Sclerochoroidal calcifications (SCs), though rare and harmless, could be associated with an underlying systemic disease, such as primary hyperparathyroidism (PHPT). Biochemical screening for hypercalcaemia is a simple, cheap and widely available tool that could facilitate an identification of undiagnosed PHPT in patients with SC. A joint care by endocrinologists and ophthalmologists is warranted for those patients, as thorough investigations and long-term follow-up plans are crucial.

scholarly journals Neurofibromatosis-related phaeochromocytoma: two cases with large tumours and elevated plasma methoxytyramine

2015 ◽  
Vol 2015 ◽  
Author(s):  
Stephanie Teasdale ◽  
Elham Reda
Keyword(s):  
Neurofibromatosis Type ◽  
List Type ◽  
Elevated Plasma ◽  
Previous Diagnosis ◽  
Clinical Presentations ◽  
Work Up ◽  
Learning Points ◽  
Large Primary

Summary We present two cases of adrenal phaeochromocytoma in patients with a previous diagnosis of neurofibromatosis type 1 (NF1). One had an adrenergic phenotype. The other had a more noradrenergic phenotype. Both had large primary tumours, which increases the likelihood of malignancy. Both also had elevated plasma-free methoxytyramine, which has been linked with malignancy even in non-SDHB phaeochromocytomas. Learning points Phaeochromocytoma can have varied clinical presentations. Methoxytyramine can be useful in the biochemical work-up of both SDHB-positive and SDHB-negative phaeochromocytoma. The utility of methoxytyramine as a marker of malignancy in NF1-related phaeochromocytoma is unclear, and cases with elevated titres warrant longer follow-up.

scholarly journals Transient diabetes insipidus in a post-partum woman with pre-eclampsia associated with residual placental vasopressinase activity

2018 ◽  
Vol 2018 ◽  
Author(s):  
Natassia Rodrigo ◽  
Samantha Hocking
Keyword(s):  
Diabetes Insipidus ◽  
Post Partum ◽  
Rare Complication ◽  
List Type ◽  
Physiological Changes ◽  
Third Trimester ◽  
Diuretic Hormone ◽  
Reproductive Techniques ◽  
Learning Points

Summary This case illustrates the exceedingly rare phenomenon of transient diabetes insipidus, in association with pre-eclampsia, occurring in the post-partum period following an in vitro fertilisation pregnancy, in an otherwise well 48-year-old lady. Diabetes insipidus can manifest during pregnancy, induced by increased vasopressinase activity secreted by placental trophoblasts and usually manifests in the third trimester. This presentation elucidates not only the intricate balance between the physiology of pregnancy and hormonal homeostasis, but also the importance of post-partum care as the physiological changes of pregnancy still hold pathological potential in the weeks immediately following delivery. Learning points: Diabetes insipidus (DI) is a rare complication of pregnancy occurring in 1 in 30 000 pregnancies. It is associated with excessive vasopressinase activity, secreted by placental trophoblasts, which increases the rate of degradation of anti-diuretic hormone. It is responsive to synthetic desmopressin 1-deanimo-8-d-arginine vasopressin as this form is not degraded by placental vasopressinase. Vasopressinase is proportional to placental weight, which is increased in pregnancies conceived with assisted reproductive techniques including in vitro fertilisation. Vasopressinase-induced DI is associated with pre-eclampsia.

scholarly journals Hypokalemia associated with mifepristone use in the treatment of Cushing’s syndrome

2019 ◽  
Vol 2019 ◽  
Author(s):  
Katta Sai ◽  
Amos Lal ◽  
Jhansi Lakshmi Maradana ◽  
Pruthvi Raj Velamala ◽  
Trivedi Nitin
Keyword(s):  
Adrenocorticotropic Hormone ◽  
Glucocorticoid Receptors ◽  
Biochemical Parameter ◽  
List Type ◽  
Care Level ◽  
Unilateral Adrenalectomy ◽  
Dosage Escalation ◽  
Potent Antagonist ◽  
Learning Points

Summary Mifepristone is a promising option for the management of hypercortisolism associated with hyperglycemia. However, its use may result in serious electrolyte imbalances, especially during dose escalation. In our patient with adrenocorticotropic hormone-independent macro-nodular adrenal hyperplasia, unilateral adrenalectomy resulted in biochemical and clinical improvement, but subclinical hypercortisolism persisted following adrenalectomy. She was started on mifepristone. Unfortunately, she missed her follow-up appointments following dosage escalation and required hospitalization at an intensive care level for severe refractory hypokalemia. Learning points: Mifepristone, a potent antagonist of glucocorticoid receptors, has a high risk of adrenal insufficiency, despite high cortisol levels. Mifepristone is associated with hypokalemia due to spill-over effect of cortisol on unopposed mineralocorticoid receptors. Given the lack of a biochemical parameter to assess improvement, the dosing of mifepristone is based on clinical progress. Patients on mifepristone require anticipation of toxicity, especially when the dose is escalated. The half-life of mifepristone is 85 h, requiring prolonged monitoring for toxicity, even after the medication is held.

scholarly journals DICER1 mutation and pituitary prolactinoma

2018 ◽  
Vol 2018 ◽  
Author(s):  
Ellena Cotton ◽  
David Ray
Keyword(s):  
Case Reports ◽  
Early Death ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
List Type ◽  
Non Coding Rna ◽  
Increased Risk ◽  
Non Coding Rnas ◽  
Learning Points

Summary A young woman carrying germline DICER1 mutation was discovered to have a pituitary microprolactinoma when she became amenorrhoic. The mutation was identified as a result of family screening following the early death of the patient’s daughter with ovarian cancer. The patient was in follow-up screening for thyroid disease, and investigations were initiated when she became amenorrhoic. MR scan revealed a 6 mm diameter pituitary microadenoma and raised prolactin. The prolactin was efficiently suppressed with low-dose cabergoline, and her menstrual cycles resumed. Dicer is an RNase enzyme, which is essential for processing small non-coding RNAs. These molecules play pleiotropic roles in regulating gene expression, by targeting mRNA sequences for degradation. DICER1 plays different roles depending on cell context, but is thought to be a functional tumour suppressor gene. Accordingly, germline mutation in one DICER1 allele is insufficient for oncogenesis, and a second hit on the other allele is required, as a result of postnatal somatic mutation. Loss of DICER1 is linked to multiple tumours, with prominent endocrine representation. Multinodular goitre is frequent, with increased risk of differentiated thyroid cancer. Rare, developmental pituitary tumours are reported, including pituitary blastoma, but not reports of functional pituitary adenomas. As DICER1 mutations are rare, case reports are the only means to identify new manifestations and to inform appropriate screening protocols. Learning points: DICER1 mutations lead to endocrine tumours. DICER1 is required for small non-coding RNA expression. DICER1 carriage and microprolactinoma are both rare, but here are reported in the same individual, suggesting association. Endocrine follow-up of patients carrying DICER1 mutations should consider pituitary disease.

scholarly journals Management of a microprolactinoma with aripiprazole in a woman with cabergoline-induced mania

2015 ◽  
Vol 2015 ◽  
Author(s):  
Lisa Burback
Keyword(s):  
Low Dose ◽  
Standard Treatment ◽  
Manic Episode ◽  
Good Effect ◽  
List Type ◽  
Manic Symptoms ◽  
Psychiatric Side Effects ◽  
Psychotic Features ◽  
Learning Points

Summary A previously healthy 32-year-old woman developed cyclical mood swings after being prescribed cabergoline for a pituitary microprolactinoma. These mood swings persisted for over 2 years, at which point she developed an acute manic episode with psychotic features and was admitted to a psychiatry unit. Cabergoline was discontinued and replaced with aripiprazole 10 mg/day. Her manic episode quickly resolved, and she was discharged within 6 days of admission. The aripiprazole suppressed her prolactin levels for over 18 months of follow-up, even after the dose was lowered to 2 mg/day. There was no significant change in tumor size over 15 months, treatment was well tolerated. However, after 9 months of taking 2 mg aripiprazole, she developed brief manic symptoms, and the dose was returned to 10 mg daily, with good effect. Learning points Dopamine agonists such as cabergoline, which are a standard treatment for microprolactinomas, can have serious adverse effects such as psychosis or valvular heart disease. Aripiprazole is a well-tolerated atypical antipsychotic that, unlike other antipsychotics, is a partial dopamine agonist capable of suppressing prolactin levels. Adjunctive, low-dose aripiprazole has been utilized to reverse risperidone-induced hyperprolactinemia. This case report demonstrates how aripiprazole monotherapy, in doses ranging from 2 to 10 mg/day, was effective in suppressing prolactin in a woman with a microprolactinoma who developed psychiatric side effects from cabergoline.

scholarly journals Catastrophic stroke in a patient with left ventricular non-compaction

2018 ◽  
Vol 5 (3) ◽  
pp. K59-K62 ◽  
Author(s):  
Sothinathan Gurunathan ◽  
Roxy Senior
Keyword(s):  
Left Ventricular ◽  
List Type ◽  
Colour Doppler ◽  
Mortality And Morbidity ◽  
History Of ◽  
Dimensional Echocardiography ◽  
Two Dimensional Echocardiography ◽  
Learning Points ◽  
Normal Cardiac Function

Summary We present the case of a 32-year-old man who presented with a remote history of chest pain and was diagnosed with non-compaction cardiomyopathy on echocardiography. On presentation, he was relatively asymptomatic with normal cardiac function. Unfortunately, he presented 1 year later with a catastrophic embolic stroke. Learning points: Left ventricular non-compaction (LVNC) is a myocardial disorder characterised by prominent left ventricular (LV) trabeculae, a thin compacted layer and deep intertrabecular recesses. Two-dimensional echocardiography with colour Doppler is the study of choice for diagnosis and follow-up of LVNC. CMR serves an important role where adequate echocardiographic imaging cannot be obtained. LVNC is associated with high rates of mortality and morbidity in adults, including heart failure, thromboembolic events and tachyarrhythmias.

scholarly journals Successful treatment of a prolactinoma with the antipsychotic drug aripiprazole

2016 ◽  
Vol 2016 ◽  
Author(s):  
Ilse C A Bakker ◽  
Chris D Schubart ◽  
Pierre M J Zelissen
Keyword(s):  
Female Patient ◽  
Clinical Relevance ◽  
Receptor Agonist ◽  
Antipsychotic Drugs ◽  
Psychotic Symptoms ◽  
List Type ◽  
Dopaminergic Drugs ◽  
Dopamine 2 Receptor ◽  
Learning Points

Summary In this report, we describe a female patient with both prolactinoma and psychotic disorder who was successfully treated with aripiprazole, a partial dopamine 2 receptor agonist. During the follow-up of more than 10 years, her psychotic symptoms improved considerably, prolactin levels normalised and the size of the prolactinoma decreased. This observation may be of clinical relevance in similar patients who often are difficult to treat with the regular dopaminergic drugs. Learning points Prolactinoma coinciding with psychosis can represent a therapeutic challenge. In contrast to many other antipsychotic drugs, aripiprazole is associated with a decrease in prolactin levels. Aripiprazole can be a valuable pharmaceutical tool to treat both prolactinoma and psychosis.

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