Leczenie akromegalii w Rumunii. Jak blisko jesteśmy uzyskania kontroli nad chorobą?

Introduction: In Romania, no nationwide data for acromegaly treatment and control rate are available. Our objective was to assess the acromegaly control rate in a tertiary referral centre, which covers an important part of Romanian territory and population of patients with acromegaly. Materials and methods: We reviewed the records of all 164 patients (49 males and 115 females; median age 55 [47, 63.5] years) with newly or previously diagnosed acromegaly, who have been assessed at least once in our tertiary referral centre between January 1, 2012 and March 31, 2016. This sample represents 13.6% of the total expected 1200 Romanian patients with acromegaly and covers 82.9% of the counties in Romania. Control of acromegaly was defined as a random serum growth hormone (GH) < 1 ng/mL and an age-normalised serum insulin-like growth factor-I (IGF-I) value. The GH and IGF-I values used for calculation of the control rate were those at the last evaluation. The same assays for GH and IGF-I measurement were used in all patients. Results: There were 147 treated and 17 untreated patients. Of the 147 patients assessed after therapy, 137 (93.2%) had pituitary surgery, 116 (78.9%) were on medical treatment at the last evaluation, and 67 (45.5%) had radiotherapy. Seventy-one (48.3%) had a random GH < 1 ng/mL, 54 (36.7%) had a normalised, age-adjusted IGF-I, and 42 (28.6%) had both normal random serum GH and IGF-I. Conclusions: In Romania, acromegaly benefits from the whole spectrum of therapeutic interventions. However, the control rate remains disappointing.Wstęp: W Rumunii nie są dostępne ogólnokrajowe dane dotyczące leczenia akromegalii ani wskaźnika kontroli choroby. Badanie przeprowadzono w celu oceny wskaźnika kontroli akromegalii w ośrodku referencyjnym trzeciego stopnia, który obejmuje opieką zdrowotną znaczną część obszaru Rumunii i populacji pacjentów z akromegalią. Materiał i metody: Autorzy dokonali przeglądu danych medycznych wszystkich 164 chorych [49 mężczyzn i 115 kobiet; mediana wieku 55 lat (47; 63,5)] z noworozpoznaną lub wcześniej zdiagnozowaną akromegalią, których przynajmniej jednokrotnie zbadano w ośrodku referencyjnym trzeciego stopnia (miejsce pracy autorów) w okresie od 1 stycznia 2012 roku do 31 marca 2016 roku. Ta próba stanowiła 13,6% całej rumuńskiej populacji chorych na akromegalię szacowaną na 1200 osób i reprezentowała 82,9% okręgów administracyjnych w Rumunii. Kontrolę akromegalii definiowano jako stężenie przygodne hormonu wzrostu (growth hormone, GH) w surowicy wynoszące poniżej 1 ng/ml oraz normalizacja odpowiednio do wieku stężenia insulinopodobnego czynnika wzrostu 1 (insulin-like growth factor-1, IGF-1) w surowicy. Do obliczenia wskaźnika kontroli choroby stosowano wartości GH i IGF-1 z ostatnich pomiarów. U wszystkich pacjentów używano tych samych testów do pomiarów GH i IGF-1. Wyniki: Badanie obejmowało 147 chorych poddanych leczeniu i 17 chorych nieleczonych. Spośród 147 chorych ocenianych po terapii, u 137 (93,2%) zastosowano leczenie chirurgiczne, 116 (78,9%) w momencie ostatniej wizyty kontrolnej stosowało leczenie farmakologiczne, a 67 (45,5%) poddano radioterapii. U 71 chorych (48,3%) przygodne stężenie GH w surowicy wynosiło poniżej 1 ng/ml, u 54 (36,7%) uzyskano normalizację stężenia IGF-1 skorygowanego względem wieku, a u 42 chorych (28,6%) uzyskano normalizację obu parametrów — GH i IGF-1. Wnioski: W Rumunii u chorych na akromegalię stosuje się szerokie spektrum interwencji terapeutycznych, jednak wskaźnik kontroli choroby nadal pozostaje niezadawalający

Improvement of acromegaly control with multimodal therapy in Romania

Introduction: In Romania, there is no acromegaly national register and there are no nationwide data available. However, some studies have reported the control rates in the country’s main referral centres. Our aim was to assess the overall control rate in our tertiary referral centre. Also, we assessed the control rate in the last three years, and we compared the results with our previous reports. Material and methods: We reviewed the charts of 186 patients with acromegaly assessed in our department between January 1st, 2012 and May 31st, 2019. We also compared the control rates for patients treated between April 1st, 2016 and May 31st, 2019 with historical controls (assessed between January 1st, 2012 and March 31st, 2016). Results: Primary analysis: There were 19 untreated and 167 treated patients, mean age 52.46 years, surgery being the most commonly used treatment. The surgical cure rate was 14.8%, and disease control with medical treatment was 35.3%. Secondary analysis: In the first group there were 45 patients, surgery also being the most commonly used treatment. The surgical cure rate was 26.9%, and disease control was 30.4%. In the second group (historical controls) there were 42 patients, surgery being the most commonly used treatment. The surgical cure rate was 9.7%, and disease control with medical treatment was 15.4%. Random GH and IGF-1 after surgery were lower in the first group (p < 0.05) Conclusions: Changes in the Romanian protocol and highly specialised pituitary centres has improved the cure rate and disease control in patients with acromegaly.

Vanishing testes syndrome-related osteoporosis and high cardio-metabolic risk in an adult male with long term untreated hypergonadotropic hypogonadism

SUMMARY The male hypogonadism-related bone mass loss is often under diagnosed. Peak bone mass is severely affected if the hypogonadism occurs during puberty and is left untreated. We present an interesting; almost bizarre case of a male with non-functional testes early during childhood and undiagnosed and untreated hypogonadism until his fifth decade of life. Forty six year male is referred for goitre, complaining of back pain. Phenotype suggested intersexuality: gynoid proportions, micropenis, no palpable testes into the scrotum, no facial or truncal hair. His medical history had been unremarkable until the previous year when primary hypothyroidism was diagnosed and levothyroxine replacement was initiated. Later, he was diagnosed with ischemic heart disease, with inaugural unstable angina. On admission, the testosterone was 0.2 ng/mL (normal: 1.7-7.8 ng/mL), FSH markedly increased (56 mUI/mL), with normal adrenal axis, and TSH (under thyroxine replacement). High bone turnover markers, and blood cholesterol, and impaired glucose tolerance were diagnosed. The testes were not present in the scrotum. Abdominal computed tomography suggested bilateral masses of 1.6 cm diameter within the abdominal fat that were removed but no gonadal tissue was confirmed histopathologically. Vanishing testes syndrome was confirmed. The central DXA showed lumbar bone mineral density of 0.905 g/cm2, Z-score of -2.9SD. The spine profile X-Ray revealed multiple thoracic vertebral fractures. Alendronate therapy together with vitamin D and calcium supplements and trans-dermal testosterone were started. Four decades of hypogonadism associate increased cardiac risk, as well as decreased bone mass and high fracture risk

Management of endocrine disease: pituitary tumour apoplexy

Pituitary tumour apoplexy (PA) is a rare clinical syndrome that occurs as a result of acute haemorrhage and/or infarction within a frequently undiagnosed pituitary tumour. The sudden enlargement of the pituitary mass undergoing PA is responsible for a wide range of acute symptoms/signs (severe headache, visual loss, diplopia, hypopituitarism, impaired consciousness) which, together with the radiological evidence of a pituitary lesion, establish the diagnosis. The optimal care of PA requires involvement of a multidisciplinary team including endocrinologist, neurosurgeon, neuroophthalmologist and the management strategy that depends on the clinical manifestations, as well as the presence of co-morbidities. Prompt surgical decompression is initially indicated in cases with severe or progressive impairment of the visual acuity or the visual fields or with altered mental state and leads to visual and neurological recovery in most of the patients. The patients with mild, stable clinical picture (including those with isolated ocular palsies) can be managed conservatively (support of fluid and electrolyte balance and stress doses of steroids in most cases) with favourable visual and neurological outcome. Frequent reassessment is mandatory because the clinical course can be unpredictable; if progression of symptoms occurs, later elective surgery is indicated and is beneficial, especially in terms of visual outcome. The endocrinological outcome is less favourable, irrespective of the treatment option, with many patients remaining on long-term replacement therapy. Despite the above guidelines, clear proof of optimal outcomes in the form of randomised controlled trials is lacking. Regrowth of the pituitary tumour years after a PA episode is possible and patients require long-term surveillance

Current treatment protocols can offer a normal or near-normal quality of life in the majority of patients with non-functioning pituitary adenomas

OBJECTIVE: Non-functioning pituitary adenomas (NFA) may be associated with significant morbidity. Published data on the quality of life (QoL) of patients with NFA are scarce and conflicting. In view of the discordant findings and the advances in the management of these subjects, we aimed to evaluate the QoL in patients with NFA followed up in a tertiary endocrine UK referral centre. SUBJECTS AND METHODS: All consecutive patients with NFA attending the outpatient clinic in the Department of Endocrinology in Oxford over a 6-month period (n = 193) were offered 3 health-related QoL questionnaires [Short Form 36 (SF36), Nottingham Health Profile (NHP), European Quality of Life Scale (EuroQoL)] to complete. Patient outcomes (response rate 93.3%) were compared with age-related UK reference values. RESULTS: None of the QoL scores in the SF-36 or the 5 dimensions of health in the EuroQoL was different from the reference values. The visual analogue scale (VAS) score (EuroQoL) was slightly compromised (P = 0.041). In the NHP questionnaire, males had no parameter significantly affected, whereas females performed worse in 1/6 areas (energy levels). Tumour recurrence was an independent predictor for compromised VAS score and for anxiety/depression (EuroQoL), and visual field defects for more frequent problems with interests/hobbies (NHP). CONCLUSIONS: Overall, the health-related QoL and perception of subjective health in patients with NFA was not compromised to any major extent suggesting that we can now offer the prospect of treatment and replacement, which will provide a normal or near-normal QoL. Specific groups are affected in various dimensions, necessitating measures to compensate for predisposing factors

Mortality in patients with non-functioning pituitary adenoma is increased:systematic analysis of 546 cases with long follow-up

ObjectiveNon-functioning pituitary adenomas (NFAs) have a prevalence of 7–22/100 000 people. A significant number of patients suffer from morbidities related to the tumor, possible recurrence(s), and treatments utilized. Our aim was to assess mortality of patients with macroNFA and predictive factors.DesignRetrospective cohort study in a tertiary referral center in the UK.MethodsA total of 546 patients operated for a macroNFA between 1963 and 2011 were studied. Mortality data were retrieved through the National Health Service Central Register and hospital records and recorded as standardized mortality ratio (SMR). Mortality was estimated for the total and various subgroups with clinical follow-up data.ResultsMedian follow-up was 8 years (range: 1 month–48.5 years). SMR was 3.6 (95% CI, 2.9–4.5), for those operated before 1990, 4.7 (95% CI, 2.7–7.6) and for those after 1990, 3.5 (95% CI, 2.8–4.4). Main causes of death were cardio/cerebrovascular (33.7%), infections (30.1%), and malignancy (28.9%). Cox regression analysis demonstrated that only age at diagnosis remained an independent predictor of mortality (hazard ratio 1.10; 95% CI, 1.07–1.13, P&lt;0.001), whereas sex, presentation with acute apoplexy, extent of tumor removal, radiotherapy, recurrence, untreated GH deficiency, FSH/LH deficiency, ACTH deficiency, TSH deficiency, and treatment with desmopressin had no impact.ConclusionsDespite the improvement of treatments over the last three decades, the mortality of patients with NFAs in our series remains high. Apart from age, factors related with the management/outcome of the tumor are not independent predictors, and pituitary hormone deficits managed with the currently-used substitution protocols do not adversely affect mortality.</jats:sec