Patient Demographics > Country of Treatment > Spain
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Summary
Ectopic Cushing’s syndrome (ECS) is a rare disease associated with significant comorbidity. Among the causes of Cushing's syndrome, adrenocorticotropic hormone-producing extrapituitary tumours are rarely reported. This low frequency makes it difficult for the physician to acquire experience in its management.
In this report, we aimed to describe the clinical presentation, diagnostic approach and treatment modalities of 12 patients with ECS treated in a single tertiarycentre over a 17-year period. Although they can appear in different locations through the neuroendocrine system, lung tumours are the most frequently reported, as it occurs in our series. They can show different levels of aggressiveness and mild to severe clinical course. Therefore, distinguishing Cushing's disease can be challenging and sometimes requires more specific techniques such as invasive tests or no conventional imaging. Treatment includes controlling both hypercortisolism and neoplastic disease, and multidisciplinary management is recommended.
Learning points
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Ectopic Cushing's syndrome (ECS) accounts for 15% of endogenous Cushing's syndromes. Its infrequency implies that both diagnosis and treatment can be a challenge for clinicians without experience in its management.
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The most common location is the lung. Although older series reported small cell lung carcinoma (SCLC) as the main ECS-producing tumour, currently most cases are attributed to lung carcinoids.
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Low-grade tumours (lung carcinoids) present themselves with a more subtle and gradual hypercortisolism, and clinically this can be difficult to differentiate from hypercortisolism due to CD. In contrast, high-grade tumours (SCLC) show severe hypercortisolism with rapid evolution.
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The diagnostic approach is complex especially when the tumour is not previously known and the clinical presentation is subtle. Functional tests are mandatory in these cases, and nuclear medicine imaging can help when conventional imaging tests fail to identify the tumour.
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ECS treatment includes a wide variety of modalities oriented to treat both the excess of cortisol and the tumour itself. The tumour prognosis depends fundamentally on the type of adrenocorticotropic hormone-secreting tumour.
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Expert and multidisciplinary team is essential for successfully treating these complex and ill patients.
Search for other papers by Alejandra Perez-Montes de Oca in
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Search for other papers by Manel Puig-Domingo in
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Summary
Hypoglycemia is an uncommon clinical problem in non-diabetic patients or patients not being treated for diabetes mellitus. It is a rare, but well-established complication of bariatric surgery and, in some cases, it can be the only symptom of another medical problem. A 50-year-old woman with a history of partially recovered hypopituitarism after transsphenoidal surgery for a non-functioning pituitary macroadenoma complained about symptomatic hypoglycemia after sleeve gastrectomy surgery. Our initial studies failed to determine the cause for these episodes and treatment with acarbose (suspecting a dumping syndrome) was not helpful. Finally, laboratory findings revealed growth hormone (GH) deficiency. The patient received treatment with GH, with the resolution of symptoms after 3 months of treatment. Our case suggests that all causes of hypoglycemia should be considered and studied after bariatric surgery. An improvement in insulin-resistance following bariatric surgery can trigger clinical manifestations of GH deficiency.
Learning points:
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Postprandial hypoglycemia after bariatric surgery is usually due to dumping syndrome.
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Even after bariatric surgery, all causes of hypoglycemia should be considered and studied.
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After significant weight loss, insulin sensitivity is usually restored and can trigger clinical manifestations of GH deficiency.
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Hypoglycemia is a rare symptom of GH deficiency.
Research Institute in Biomedical and Health Sciences, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain
Search for other papers by Mauro Boronat in
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Summary
Isolated, adult-onset central hypothyroidism is very rare, and its diagnosis can be challenging. A 42-year-old patient was referred for evaluation of a 2.8 cm thyroid nodule. She referred symptoms that could be attributed to hypothyroidism and thyroid tests showed low TSH and normal-low levels of free T4. However, evaluation of the remaining pituitary hormones and pituitary MRI were normal, yet a radionuclide scanning revealed that the thyroid nodule was ‘hot’ and the tracer uptake in the remaining thyroid tissue was suppressed. Interpretation of these studies led to a misdiagnosis of subclinical hyperthyroidism and the patient was treated with radioiodine. Soon after treatment, she developed a frank hypothyroidism without appropriate elevation of TSH and the diagnosis of central hypothyroidism was made a posteriori. Long term follow-up revealed a progressive pituitary failure, with subsequent deficiency of ACTH and GH. This case should alert to the possibility of overlooking central hypothyroidism in patients simultaneously bearing primary thyroid diseases able to cause subclinical hyperthyroidism.
Learning points:
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Although rarely, acquired central hypothyroidism can occur in the absence of other pituitary hormone deficiencies.
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In these cases, diagnosis is challenging, as symptoms are unspecific and usually mild, and laboratory findings are variable, including low, normal or even slightly elevated TSH levels, along with low or low-normal concentrations of free T4.
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In cases with low TSH levels, the coexistence of otherwise common disorders able to cause primary thyroid hyperfunction, such as autonomous nodular disease, may lead to a misdiagnosis of subclinical hyperthyroidism.
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Summary
Pituitary apoplexy is a rare but potentially life-threatening clinical syndrome characterised by ischaemic infarction or haemorrhage into a pituitary tumour that can lead to spontaneous remission of hormonal hypersecretion. We report the case of a 50-year-old man who attended the emergency department for sudden onset of headache. A computed tomography (CT) scan at admission revealed pituitary haemorrhage and the blood test confirmed the clinical suspicion of acromegaly and an associated hypopituitarism. The T1-weighted magnetic resonance imaging (MRI) showed the classic pituitary ring sign on the right side of the pituitary. Following admission, he developed acute-onset hyponatraemia that required hypertonic saline administration, improving progressively. Surprisingly, during the follow-up, IGF1 levels became normal and he progressively recovered pituitary function.
Learning points:
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Patients with pituitary apoplexy may have spontaneous remission of hormonal hypersecretion. If it is not an emergency, we should delay a decision to undertake surgery following apoplexy and re-evaluate hormone secretion.
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Hyponatraemia is an acute sign of hypocortisolism in pituitary apoplexy. However, SIADH although uncommon, could appear later as a consequence of direct hypothalamic insult and requires active and individualised treatment. For this reason, closely monitoring sodium at the beginning of the episode and throughout the first week is advisable to guard against SIADH.
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Despite being less frequent, if pituitary apoplexy is limited to the tumour, the patient can recover pituitary function previously damaged by the undiagnosed macroadenoma.
Search for other papers by Jose León Mengíbar in
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Search for other papers by Mercedes Rigla in
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Summary
Durvalumab, a human immunoglobulin G1 kappa monoclonal antibody that blocks the interaction of programmed cell death ligand 1 (PD-L1) with the PD-1 and CD80 (B7.1) molecules, is increasingly used in advanced neoplasias. Durvalumab use is associated with increased immune-related adverse events. We report a case of a 55-year-old man who presented to our emergency room with hyperglycaemia after receiving durvalumab for urothelial high-grade non-muscle-invasive bladder cancer. On presentation, he had polyuria, polyphagia, nausea and vomiting, and laboratory test revealed diabetic ketoacidosis (DKA). Other than durvalumab, no precipitating factors were identified. Pre-durvalumab blood glucose was normal. The patient responded to treatment with intravenous fluids, insulin and electrolyte replacement. Simultaneously, he presented a thyroid hormone pattern that evolved in 10 weeks from subclinical hyperthyroidism (initially attributed to iodinated contrast used in a previous computerised tomography) to overt hyperthyroidism and then to severe primary hypothyroidism (TSH: 34.40 µU/mL, free thyroxine (FT4): <0.23 ng/dL and free tri-iodothyronine (FT3): 0.57 pg/mL). Replacement therapy with levothyroxine was initiated. Finally, he was tested positive for anti-glutamic acid decarboxylase (GAD65), anti-thyroglobulin (Tg) and antithyroid peroxidase (TPO) antibodies (Abs) and diagnosed with type 1 diabetes mellitus (DM) and silent thyroiditis caused by durvalumab. When durvalumab was stopped, he maintained the treatment of multiple daily insulin doses and levothyroxine. Clinicians need to be alerted about the development of endocrinopathies, such as DM, DKA and primary hypothyroidism in the patients receiving durvalumab.
Learning points:
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Patients treated with anti-PD-L1 should be screened for the most common immune-related adverse events (irAEs).
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Glucose levels and thyroid function should be monitored before and during the treatment.
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Durvalumab is mainly associated with thyroid and endocrine pancreas dysfunction.
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In the patients with significant autoimmune background, risk–benefit balance of antineoplastic immunotherapy should be accurately assessed.
Search for other papers by Alejandro García-Castaño in
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Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain
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Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain
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Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain
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Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain
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Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain
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Summary
Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion and inappropriately normal or mildly elevated parathyroid hormone (PTH) concentrations. We performed a clinical and genetic characterization of one patient suspected of familial hypocalciuric hypercalcemia type I. Patient presented persistent hypercalcemia with normal PTH and 25-hydroxyvitamin D levels. The CASR was screened for mutations by PCR followed by direct Sanger sequencing and, in order to detect large deletions or duplications, multiplex ligation-dependent probe amplification (MLPA) was used. One large deletion of 973 nucleotides in heterozygous state (c.1733-255_2450del) was detected. This is the first large deletion detected by the MLPA technique in the CASR gene.
Learning points:
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Molecular studies are important to confirm the differential diagnosis of FHH from primary hyperparathyroidism.
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Large deletions or duplications in the CASR gene can be detected by the MLPA technique.
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Understanding the functional impact of the mutations is critical for leading pharmacological research and could facilitate the therapy of patients.
Autonomous University of Barcelona, Barcelona, Spain
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Autonomous University of Barcelona, Barcelona, Spain
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Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
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Endocrinology and Diabetes Research Group, BioCruces Health Research Institute, UPV-EHU, CIBERDEM, Cruces University Hospital, Barakaldo, Spain
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Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Department of Pediatrics, Children’s University Hospital Vall Hebron, Barcelona, Spain
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Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
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Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
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Summary
Two pediatric patients with different causes of hyperparathyroidism are reported. First patient is a 13-year-old male with severe hypercalcemia due to left upper parathyroid gland adenoma. After successful surgery, calcium and phosphate levels normalized, but parathormone levels remained elevated. Further studies revealed a second adenoma in the right gland. The second patient is a 13-year-old female with uncommon hypercalcemia symptoms. Presence of pathogenic calcium-sensing receptor gene (CASR) mutation was found, resulting in diagnosis of symptomatic familial hypocalciuric hypercalcemia. Cinacalcet, a calcium-sensing agent that increases the sensitivity of the CASR, was used in both patients with successful results.
Learning points:
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Hyperparathyroidism is a rare condition in pediatric patients. If not treated, it can cause serious morbidity.
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Genetic tests searching for CASR or MEN1 gene mutations in pediatric patients with primary hyperparathyroidism should be performed.
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Cinacalcet has been effective for treating different causes of hyperparathyroidism in our two pediatric patients.
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Treatment has been well tolerated and no side effects have been detected.
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Summary
Methimazole (MMI) and propylthiouracil (PTU) are widely used antithyroid drugs (ATD) that have been approved for the treatment of hyperthyroidism. Hepatotoxicity may be induced by these drugs, though they exert dissimilar incidence rates of hepatotoxicity and, possibly, with different underlying pathogenic mechanisms. We report the case of a 55-year-old woman with no relevant medical history diagnosed with hyperthyroidism due to Graves’ disease, who developed two episodes of acute hepatitis concurrent with the consecutive administration of two different ATDs, first MMI and then PTU. Given the impossibility of administering ATDs, it was decided to perform a total thyroidectomy because the patient was found to be euthyroid at that point. Pathological anatomy showed diffuse hyperplasia and a papillary thyroid microcarcinoma of 2 mm in diameter. Subsequent clinical check-ups were normal. This case suggests the importance of regular monitoring of liver function for hyperthyroid patients. Due to the potential severity of this side effect, it is recommended to determine baseline liver function prior to initiation of treatment.
Learning points:
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We present a rare case of two acute hepatitis episodes concurrent with two different consecutive ATD therapies.
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Our results highlight the relevance of a liver function monitoring during the treatment with MMI or PTU.
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A baseline assessment of the liver function before starting an ATD treatment should be recommendable.
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Summary
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age.
Learning points:
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It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery.
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A new diagnosis of a hereditary disease has familial implications and needs genetic counselling.
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It is also important to discard other syndrome’s comorbidities.
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Summary
Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS). Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m) and weight (BMI: 29.6 kg/m2), microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.
Learning points:
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Kallmann syndrome is a genetically heterogeneous disease characterized by hypogonadotropic hypogonadism with anosmia or hyposmia associated with defects in the production or action of gonadotropin-releasing hormone (GnRH) and hypoplasia of the olfactory bulbs.
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Several genes have been implicated in Kallmann syndrome, including KAL1, located in the Xp22.3 region, which is responsible for X-linked Kallmann syndrome. KAL1 encodes the protein anosmin-1. X-linked ichthyosis is caused by deficiency of the steroid sulfatase enzyme, encoded by STS, which is also located in the Xp22.3 region. Deletions involving this region can affect both genes and result in contiguous gene syndromes.
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Phenotype can guide clinicians toward suspicion of a specific genetic mutation. KAL1 mutations are mostly related to microgenitalia, unilateral renal agenesis and synkinesia, although patients need not present all these abnormalities.
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Longstanding untreated hypogonadism is associated with poor sexual health, osteoporosis and metabolic syndrome with the concomitant risk of developing type 2 diabetes mellitus and obesity.
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Treatment aims to promote the development of secondary sex characteristics, build and sustain normal bone and muscle mass and restore fertility. Treatment can also help minimize some psychological consequences.
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Treatments available for patients with congenital GnRH deficiency such as Kallmann syndrome include gonadal steroid hormones, human gonadotropins and GnRH. The choice of therapy depends on the goal or goals.
