Leandro Kasuki

Despite significant advances in the diagnosis and treatment of acromegaly, diagnostic delay remains substantial, often exceeding 6 to 10 years, while a significant proportion of patients remain inadequately controlled despite multiple available therapeutic modalities. Artificial intelligence (AI) is a promising tool to address several challenges across the acromegaly care pathway, from early disease detection to individualized treatment selection and outcome prediction. AI-assisted facial and hand image analysis has demonstrated the potential to identify subtle phenotypic changes and reduce diagnostic delay, facilitating earlier recognition of the disease. In parallel, machine learning and deep learning approaches have been increasingly employed to predict surgical remission, response to medical therapy, and radiotherapy outcomes, often outperforming individual biomarkers. AI models further support the development of precision medicine strategies capable of improving patient stratification and therapeutic decision-making. This review summarizes current and emerging applications of AI in acromegaly, including facial recognition technologies, radiomics, and machine-learning predictive models integrating clinical, biochemical, radiological, and molecular data.

Primaryhyperparathyroidism (PHPT) is a disorder of mineral metabolism caused by inappropriate or excessive secretion of parathyroid hormone. It occurs sporadically in approximately 95% of cases but may also be associated with complex syndromes and/or a familial (i.e., hereditary) history. We report the clinical, laboratory, and genetic profiles of a case series with familial isolated hyperparathyroidism. Diagnosis was established in patients aged 22-41 years (median = 32), and recurrence was identified in four patients (three with adenoma and one with hyperplasia and parathyroid carcinoma). Six family members presented with a heterozygous mutation in the CDC73 gene, and one patient had a copy number variation of undetermined clinical significance in the same gene. In addition, we review the particularities of each condition associated with PHPT, indications for genetic evaluation, and recommendations for follow-up and treatment.

Purpose Intrasellar arachnoid cysts are extremely rare, and their differentiation from other cystic lesions can be challenging because of their similar imaging characteristics. Methods This study aimed to describe the imaging characteristics observed in five patients and correlate them with developmental and growth mechanisms. Results These cysts are characterized by the lack of contrast enhancement in their walls and posterior displacement of the pituitary gland. As a result, no enhancing tissue is present at the anterior portion of the sella where it interfaces with the sphenoid sinus. Conclusion We believe that this sign will lead to more accurate diagnosis and improve surgical planning.

Measurement of serum prolactin levels is a common practice in clinical settings, particularly among women of reproductive age. In cases of hyperprolactinemia, identifying macroprolactinemia can help prevent unnecessary investigation and inappropriate treatments. This Position Statement, jointly prepared by the Brazilian Society of Endocrinology and Metabolism (SBEM) and the Brazilian Society of Clinical Pathology/Laboratory Medicine (SBPC/ML), addresses several aspects of macroprolactinemia relevant to clinical practice – including concepts, definitions, epidemiological aspects, measurement techniques, and the role of screening – and [...] ABSTRACT Measurement of serum prolactin levels is a common practice in clinical settings, particularly among women of reproductive age. In cases of hyperprolactinemia, identifying macroprolactinemia can help prevent unnecessary investigation and inappropriate treatments. This Position Statement, jointly prepared by the Brazilian Society of Endocrinology and Metabolism (SBEM) and the Brazilian Society of Clinical Pathology/Laboratory Medicine (SBPC/ML), addresses several aspects of macroprolactinemia relevant to clinical practice – including concepts, definitions, epidemiological aspects, measurement techniques, and the role of screening – and

Introduction Acromegaly is associated with a possible increased risk of neoplasias, like colorectal cancer (CRC), although magnitude of this risk is unclear. Objectives Evaluate frequency of colonic adenomatous polyps and CRC in patients with acromegaly at first and subsequent colonoscopies; correlate risk factors of CRC and disease activity of acromegaly with colonoscopy findings and analyze relationship of acromegaly as a risk factor for CRC and the best period for screening this neoplasia. Methods Patients ≥18 years-old with acromegaly were included. A questionnaire involving characteristics of follow-up of acromegaly and risk factors of CRC was created. Biochemical and colonoscopic data were collected through medical records. Only full-length colonoscopies with satisfactory colonic preparation were included. Results 123 patients (77 women) were included (mean age at diagnosis of 43.1 years and mean follow-up of 13.7 years). In baseline colonoscopy, 80.5% had non-neoplastic findings, 14.6% non-advanced adenomas, 3.3% advanced adenomas and 1.6% CRC. At end of the study, 3 (2.4%) patients were diagnosed with CRC. No patient under 50 years had a neoplastic lesion on colonoscopy. We observed a positive statistically significant relationship between smoking (p = 0.026), age at diagnosis of acromegaly (p < 0.001), age at baseline colonoscopy (p = 0.002), and risk of adenomas and/or CRC at initial colonoscopy. Conclusions Smoking and advanced age were positively related to a higher risk of developing premalignant/malignant colonic lesions. Age ( > 50 years) was the most robust variable. Our data suggest that screening age for CRC in acromegaly should be reviewed.

Key points • Hyperprolactinemia (HPRL) is a cause of menstrual irregularity, galactorrhea, hypogonadism and infertility. Recognizing the cause of HPRL is essential to institute appropriate treatment. • Drug treatment with dopamine agonist (DA) is the first line of therapy for symptomatic HPRL due to prolactinoma or idiopathic HPRL. • Dopamine agonist treatment is effective in 80-90% of cases. • Infertility treatment in patients with HPRL is also carried out with DA, aiming to normalize prolactin (PRL) levels. • The risk of symptomatic growth of prolactinomas during pregnancy is related to the size of the tumor, length of previous treatment and higher PRL levels, and is less than 5% in microprolactinomas. • Hyperprolactinemia remission can occur after pregnancy and menopause, and in around 30% of cases following drug treatment. • The use of drugs such as antidepressants and antipsychotics is a frequent cause of HPRL, and has particularities in its management.

Keypoints • Hyperprolactinemia (HPRL) is a cause of menstrual irregularity, galactorrhea, hypogonadism and infertility. • Serum prolactin measurement should only be performed in the presence of compatible symptoms and/or in the presence of a pituitary tumor, even with an incidental diagnosis. Dosage is not recommended as a routine examination. • There are several causes of HPRL. In most cases, it is caused by pregnancy, hypothalamic-pituitary disconnection or PRL-secreting pituitary adenomas (prolactinomas), or it can also be secondary to the use of medications. • Recognizing clinical, laboratory and imaging findings is essential for the diagnosis of prolactinoma, and its differential diagnoses.

Hyperprolactinemia is a frequent cause of menstrual irregularity, galactorrhea, hypogonadism, and infertility. The most common etiologies of hyperprolactinemia can be classified as physiological, pharmacological, and pathological. Among pathological conditions, it is essential to distinguish prolactinomas from other tumors and pituitary lesions presenting with hyperprolactinemia due to pituitary stalk disconnection. Proper investigation considering clinical data, laboratory tests, and, if necessary, imaging evaluation, is important to identify the correct cause of hyperprolactinemia and manage the patient properly. This position statement by [...] ABSTRACT Hyperprolactinemia is a frequent cause of menstrual irregularity, galactorrhea, hypogonadism, and infertility. The most common etiologies of hyperprolactinemia can be classified as physiological, pharmacological, and pathological. Among pathological conditions, it is essential to distinguish prolactinomas from other tumors and pituitary lesions presenting with hyperprolactinemia due to pituitary stalk disconnection. Proper investigation considering clinical data, laboratory tests, and, if necessary, imaging evaluation, is important to identify the correct cause of hyperprolactinemia and manage the patient properly. This position statement by

Dopamine agonists are the first line of treatment for patients with symptomatic hyperprolactinemia due to prolactinomas and in those with idiopathic hyperprolactinemia. Treatment with these agents is effective in 80%-90% of the cases. Infertility treatment of patients with hyperprolactinemia is also carried out with dopamine agonists, aiming for the normalization of prolactin levels. The risk of symptomatic growth of prolactinomas during pregnancy is dependent on the tumor’s size, duration of previous treatments, and prolactin levels. Notably, the corresponding risk [...] ABSTRACT Dopamine agonists are the first line of treatment for patients with symptomatic hyperprolactinemia due to prolactinomas and in those with idiopathic hyperprolactinemia. Treatment with these agents is effective in 80%-90% of the cases. Infertility treatment of patients with hyperprolactinemia is also carried out with dopamine agonists, aiming for the normalization of prolactin levels. The risk of symptomatic growth of prolactinomas during pregnancy is dependent on the tumor’s size, duration of previous treatments, and prolactin levels. Notably, the corresponding risk