SummaryAddison’s disease, or primary adrenocortical insufficiency, is a long-term, potentially severe, rare endocrine disorder. In pregnancy, it is even rarer. We report the case of a 30-year-old pregnant patient with Addison’s disease, referred to Obstetrics-Endocrinology specialty consult at 14 weeks gestation. She had been to the emergency department of her local hospital various times during the first trimester presenting with a clinical scenario suggestive of glucocorticoid under-replacement (nausea, persistent vomiting and hypotension), but this was interpreted as normal pregnancy symptoms. Hydrocortisone dose was adjusted, and the patient maintained regular follow-up. No complications were reported for the remainder of gestation and delivery. Pregnant patients with Addison’s disease should be monitored during gestation and in the peripartum period by multidisciplinary teams. Adjustments in glucocorticoid and mineralocorticoid replacement therapy are often necessary, and monitoring should be based mainly on clinical findings, which becomes increasingly difficult during pregnancy. Patient education and specialized monitoring are key to avoiding complications from under- or over-replacement therapy in this period.Learning points:An increase in glucocorticoid replacement dose is expected to be necessary during pregnancy in a woman with Addison’s disease.Patient education regarding steroid cover and symptoms of acute adrenal crisis are fundamental.Monitoring in this period is challenging and remains mainly clinical.The increase in hydrocortisone dose often obviates the need to increase fludrocortisone dose.

SummaryAddison’s disease (AD) is the most common endocrine manifestation of antiphospholipid syndrome (APS), but it remains a very rare complication of the syndrome. It is caused by adrenal venous thrombosis and consequent hemorrhagic infarction or by spontaneous (without thrombosis) adrenal hemorrhage, usually occurring after surgery or anticoagulant therapy. We present a clinical case of a 36-year-old female patient with a previous diagnosis of APS. She presented with multiple thrombotic events, including spontaneous abortions. During evaluation by the third episode of abortion, a CT imaging revealed an adrenal hematoma, but the patient was discharged without further investigation. A few weeks later, she presented in the emergency department with manifestations suggestive of adrenal insufficiency. Based on that assumption, she started therapy with glucocorticoids, with significant clinical improvement. After stabilization, additional investigation confirmed AD and excluded other etiologies; she also started mineralocorticoid replacement. This case illustrates a rare complication of APS that, if misdiagnosed, may be life threatening. A high index of suspicion is necessary for its diagnosis, and prompt treatment is crucial to reduce the morbidity and mortality potentially associated.Learning points:AD is a rare but life-threatening complication of APS.It is important to look for AD in patients with APS and a suggestive clinical scenario.APS must be excluded in patients with primary adrenal insufficiency and adrenal imaging revealing thrombosis/hemorrhage.Glucocorticoid therapy should be promptly initiated when AD is suspected.Mineralocorticoid replacement must be started when there is confirmed aldosterone deficiency.Hypertension is a common feature of APS; in patients with APS and AD, replacement therapy with glucocorticoids and mineralocorticoids may jeopardize hypertension management.

Woodhouse-Sakati Syndrome is a very rare autosomal recessive disorder caused by pathogenic variants in the DCAF17 gene, which encodes DDB1-and CUL4-associated factor 17. It is a multisystemic disorder characterized by hypogonadism, adolescent-to young adult-onset diabetes mellitus, hypothyroidism, and alopecia. Neurologic involvement includes childhood-onset moderate bilateral sensorineural hearing loss, mild intellectual disability adolescent-to young adult-onset of extrapyramidal findings, dysarthria, and dysphagia. Brain imaging typically reveals iron deposition in the globus pallidus and periventricular leukodystrophy. We report the case of a 31-year-old Portuguese female, the only child of a consanguineous couple. She presented with cognitive impairment, spastic paraparesis, lower limb dystonia, dysarthria, and dysphagia. She also had hypergonadotrophic hypogonadism associated with primary amenorrhea, insulin-dependent diabetes mellitus with retinopathy, primary hypothyroidism, moderate bilateral sensorineural hearing loss, and alopecia. Serial brain magnetic resonance imaging showed a progressive periventricular leukodystrophy with pontine involvement and significant bilateral iron deposition in the globus pallidus, substantia nigra, and red nucleus.

Psoriasis is a chronic and immune-mediated skin disease with a considerable negative impact on quality of life. The link between psoriasis, especially guttate psoriasis, and streptococcal infections, namely tonsillitis, has been studied for several years. Some authors have also suggested an association with other types of psoriasis, such as plaque psoriasis, which is the most common. The role of tonsillectomy in the treatment of plaque psoriasis is not consensual. This case report aims to discuss this topic. The authors intend to highlight the growing evidence of a relationship between plaque psoriasis and an infectious pathology of the otolaryngology area. A clinical case of severe chronic plaque psoriasis with exacerbations linked to acute tonsillitis is described. The case was recalcitrant to dermatological treatment and tonsillectomy was included in the treatment options. After surgery, the skin disease was evidently controlled and significant improvement on the patient's quality of life was also evident.

We provide a suitable Mini-TQ-pv to be used in the assessment of Portuguese-speaking patients with tinnitus.

No abstract

Prolactinomas are a common cause of gonadal dysfunction and infertility. We present the case of a 38-year-old woman with history of amenorrhea and infertility. At seven weeks of pregnancy she presented neuro-ophthalmologic complaints of headaches, diplopia, and right ptosis. The work-up study revealed an invasive pituitary macroadenoma with a maximum diameter of 9 cm and serum prolactin of 25,800 ng/mL (3-20). At 12 weeks, she was referred to the Endocrinology Department of the Coimbra University Hospital and started therapy with bromocriptine, initially 5 mg/day and then at crescent doses. Hyperprolactinemia was rapidly and drastically reduced to 254 ng/mL three weeks after taking bromocriptine 15 mg/day. Tumoral volume was reduced and there was improvement of III pair paresis. At 38 weeks, a male healthy baby was born. This is a relevant clinical case that illustrates the efficacy and safety of bromocriptine therapy during pregnancy, even in severe cases like this one.

ObjectiveTo translate the International Outcome Inventory for Hearing Aids (IOI-HA) Questionnaire from English to Portuguese (from Portugal) and to validate this instrument of study on the Portuguese population.DesignIn this prospective study, a translation from English into Portuguese of the IOI-HA was performed, and linguistic adaptation and counter translation were also accomplished. The data were analysed for internal consistency testing for correlations between each individual item and the total score of the IOI-HA, assessing the Cronbach α and performing test–retest analysis.Setting and participants80 hearing aid users aged 18 years or older were recruited from an ear, nose and throat (ENT) appointment in Coimbra's hospital, Portugal. 84% of the participants were unilateral hearing aid users, whereas 16% were bilateral users.InterventionsThe patients volunteered to answer the questionnaire during an ENT appointment. All of the patients had been using the hearing aids for more than 3 years.After the first application of the questionnaire, a new appointment was planned for retesting, within at least 7 days to no more than 60 days. 29 participants answered the questionnaire again according to the same procedure.ResultsThe mean IOI-HA total score in the study population was 27.33±4.93 (9–35). The mean values obtained for each item of the questionnaire ranged from 3.19 to 4.54. The Cronbach α was 0.838 and the Cronbach α values when the item was removed, were also significantly strong. The test–retest analysis revealed no differences between the paired groups.ConclusionsIn the present study a valid and reliable translation and adaptation of the IOI-HA into Portuguese from Portugal is proposed. This tool will be available for clinical assessment of hearing aid users.