This study aimed to assess the clinical practices and attitudes towards Hashimoto's thyroiditis (HT) among pediatric (PEs) and adult endocrinologists (AEs).

The honeymoon phase in Type 1 Diabetes (T1D) presents a temporary improvement in glycemic control, complicating insulin management. This study aims to develop and validate a machine learning-driven method for accurately detecting this phase to optimize insulin therapy and prevent adverse outcomes.

Neudesin is a newly discovered protein mainly secreted from adipose tissue and the brain. It plays a role as a neurotrophic factor in the brain and a negative regulator of energy expenditure. Neurodevelopmental delay and cognitive dysfunction are common features in cases with congenital hypothyroidism (CH) without treatment. Considering neudesin's role in brain development and its contribution to the survival of mature neurons, any possible relationships between neudesin and thyroid hormone were evaluated.

Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.

ACTION Teens (NCT05013359) surveyed adolescents living with obesity (ALwO), their caregivers, and healthcare professionals (HCPs) in 10 countries to identify attitudes, perceptions, behaviors, and barriers preventing effective obesity care. This subanalysis identified key findings from Türkiye.

Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17-hydroxylase deficiency and lipoid CAH (LCAH) may also be encountered in clinical practice. 11β-OHD is the most common type of CAH after 21-OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21-OHD, findings of mineralocorticoid deficiency are not observed. 3β-HSD deficiency, with an incidence of less than 1/1,000,000 live births, is characterized by impairment of both adrenal and gonadal steroid biosynthesis very early in life, with inadequate virilization in boys and varying degrees of virilization in girls. It may present with salt wasting crisis or delayed puberty in both genders. While 46,XY disorders of sex development is frequently observed in boys with 17-hydroxylase deficiency, immature pubertal development and primary amenorrhea are observed in girls due to estrogen deficiency throughout adolescence. Patients with LCAH, which develops due to steroidogenic acute regulatory protein deficiency, typically present with salt wasting in the first year of life. It is characterized by complete or near-complete deficiency of adrenal and gonadal steroid hormones and progressive accumulation of cholesterol esters in the adrenal gland.

Prolactinomas are the most common hormone-secreting pituitary adenomas in adolescents. Dopamine agonists (DA) are used as first-line medical treatment. DAs are associated with an array of physical side effects; however, impulse control disorders (ICDs), such as pathological gambling (PG), have also been reported in adults. A 15.7-year-old male with no psychiatric history was referred for headache and elevated prolactin (PRL) levels. He was diagnosed with PRL-secreting pituitary macroadenoma After initiating DA therapy with cabergoline (CBG), normalization of PRL levels and a considerable decrease in tumor size were observed. Central hypothyroidism and adrenal insufficiency present at the time of diagnosis were resolved. CBG dose was adjusted according to the test results over time. However, after two and a half years of therapy (while using 1.5 mg CBG per week), the patient developed PG, incurring debts and affecting familial relationships. Upon reducing the CBG dosage, PG symptoms ceased. This is the first case report of an adolescent with a prolactin-secreting macroadenoma who developed PG as a side effect of CBG treatment. This case highlights the need for careful monitoring of psychiatric symptoms in pediatric patients with prolactinoma on DAs.

Adrenal insufficiency (AI) is a life-threatening disorder. Defects at any level of the hypothalamic-pituitary-adrenal axis can impair adrenal function. It is difficult to make a diagnosis of AI in the newborn because during the neonatal period clinical findings are not specific and range from insidious, nonspecific complaints to circulatorycollapse due to hypovolemic shock. Another condition when is difficult to make a diagnosis of AI is in critically ill patients. There is no consensus on which patients to test for AI, which tests to use and how to interpret them. In this evidence-based review we aim to provideinformation for the evaluation of adrenal function results and findings in both the neonatal period and critical illness in childhood and adolescence.

Signs of virilization, such as clitoromegaly, labio-scrotal fusion, and urogenital sinus may be observed in females with 21-hydroxylase deficiency (21-OHD) and other rare virilizing forms of congenital adrenal hyperplasia (CAH). This makes sex determination difficult, and multiple reconstructive surgeries in the postnatal period may be required. As 21-OHD is an autosomal recessive disease, the chance of any child being affected is one in four and so only one in eight will be an affected female. The primary objective of antenatal diagnosis is to identify only the affected fetus in the early gestational weeks before the onset of genital organogenesis and to treat that case. Therefore, studies aimed at antenatal diagnosis and preventing adrenal androgen exposure in the female fetus with CAH have long been of interest. Antenatal steroid treatment is considered experimental and controversial for safety reasons in recent clinical guidelines. If antenatal treatment is to be used, it is recommended that it should be performed in experienced centers that can collect data on a large number of cases which will help to define the benefits and harms of treatment better. In the postnatal period, a severe deficiency of the 21-hydroxylase enzyme leads to life-threatening adrenocortical insufficiency in both sexes and varying degrees of pathology of the external genitalia in females. This condition is also associated with high mortality in the first days of life and an increased risk of incorrect sex assignment. Neonatal screening for 21-OHD CAH effectively detects the severe forms and reduces mortality, and it is instrumental in the correct sex assignment of female cases.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency accounts for approximately 95% of all CAH cases and is one of the most common inborn errors of metabolism. While glucocorticoid therapy has significantly improved patient outcomes, the focus has shifted towards managing the long-term effects. Numerous adverse outcomes have been associated with CAH, including those resulting from supraphysiological doses of glucocorticoid and mineralocorticoid replacement, excessive adrenal androgen secretion, and elevated levels of steroid precursors and adrenocorticotropic hormone. Despite advances in treatment, long-term complications persist due to the inability to replicate physiological hormone secretion fully. In this review, we explore critical aspects of managing CAH, focusing on cardiometabolic health, bone integrity, fertility, and other significant long-term consequences, informed by the latest literature.

Exposure of the developing brain to androgens during fetal life is known to affect sexual development, including postnatal sex and sexual orientation. However, these relationships are both multifactorial and unpredictable. It is generally assumed that congenital adrenal hyperplasia (CAH) has greater effects in women than in men due to non-physiological adrenal androgen excess. Outcome information on patients with CAH often indicates poor quality of life, general maladjustment, problems with sexuality, and decreased fertility. With advances in medical treatment and surgery and changes in societal perspectives on gender and sexuality, there is a need for greater consideration of quality of life factors, including socialization and sexuality.

Central adrenal insufficiency (CAI) occurs due to a pituitary gland disorder (secondary AI) or hypothalamic dysfunction (tertiary AI). It is a potentially life-threatening condition that has many congenital and acquired causes. Adrenocorticotropic hormone deficiency may be isolated or more commonly it can be accompanied by other pituitary hormone deficiencies or midline defects. The signs and symptoms of CAI are associated with glucocorticoid deficiency. A three-step diagnostic approach including dynamic stimulation tests is recommended in the evaluation of patients with suspected CAI. Here, members of the ‘Adrenal Working Group’ of ‘The Turkish Society for Pediatric Endocrinology and Diabetes’ present an evidence-based review with good practice points and recommendations for etiology and diagnostic approach in children and adolescents with CAI.

Primary adrenal insufficiency (PAI) is a critical condition that requires prompt diagnosis and initiation of treatment. Diagnosis can be challenging due to various underlying causes, including defects in adrenal gland development, resistance to adrenocorticotropic hormone, autoimmune causes, and metabolic problems. A specific diagnosis is essential for developing a treatment plan and identifying other possible accompanying pathologies. Biochemical studies, genetic analyses, and imaging techniques are helpful in establishing a specific diagnosis. This evidence-based guideline includes the specific diagnoses that cause PAI and their clinical and genetic features. It also provides evidence-based steps to follow when making a diagnosis.

Adrenal crisis is a life threatening complication of adrenal insufficiency (AI). Its treatment is urgent and parenteral hydrocortisone (HC) should be given at 10-15 times physiological doses in this situation. If HC is not available, alternatively prednisolone or methyl prednisolone may be used. In cases where peripheral venous access cannot be achieved quickly, intramuscular (IM) administration should be performed without delay. Fluid deficit, hypoglycemia, hyponatremia and hyperkalemia should be evaluated and corrected. Stressful conditions, such as physical stress, accidents, injuries, surgical interventions and anesthesia increase the need for cortisol and may lead the development of adrenal crisis. In order to prevent adrenal crisis, glucocorticoid dose should be increased according to the magnitude and severity of the stress situation as described in this review. Patients’ and/or their families’ education may improve the management of AI and reduce the frequency of adrenal crisis and/or mortality. They should be trained about conditions leading to adrenal crisis, how to increase the glucocorticoid dose in stress situations, recognizing signs of adrenal crisis and using IM HC if it is needed. All patients should be encouraged to carry a card/information sheet/medical alert bracelet or necklace indicating the diagnosis of AI and need for HC administration. It is useful for patients and parents to have an emergency glucocorticoid injection kit and to receive self-injection training.

Adrenal insufficiency (AI) is defined as the inability of the adrenal cortex to produce adequate amounts of glucocorticoids and/or mineralocorticoids. As these hormones have important roles in water-salt balance and energy homeostasis, AI is a serious and potentially life-threatening condition. Glucocorticoid replacement therapy is vital in all cases of AI. In children with primary AI (PAI), it is recommended to start glucocorticoid replacement therapy with three or four doses of hydrocortisone and adjust according to individual need. Long-acting glucocorticoids such as prednisolone and dexamethasone are not recommended in children with AI. Mineralocorticoid and salt replacement therapy is also necessary in PAI with aldosterone deficiency. In childhood, it is recommended that patients are monitored at least every three to four months with clinical evaluation including weight gain, growth rate, blood pressure and general well-being of the patient. To prevent adrenal crisis in patients with PAI, glucocorticoid dose adjustment is recommended to patients and/or their families according to the magnitude and severity of the stress situation. This education should include recognition of conditions leading to adrenal crisis, signs of adrenal crisis and how to respond to an impending adrenal crisis. With long-term use of glucocorticoids, the lowest possible dose should be maintained to control the disease to avoid possible side effects. Here, members of the ‘Adrenal Working Group’ of ‘The Turkish Society for Pediatric Endocrinology and Diabetes’ present an evidence-based review with good practice points and recommendations for the diagnosis and follow-up of non-stress AI.

The 2023 earthquake in southeastern Turkey significantly impacted physical and emotional well-being in the region. This study evaluates the earthquake's effects on glycemic control, diabetes management, and stress levels in children with type 1 diabetes (T1D).

The Menstrual Bleeding Questionnaire(MBQ) is a scale developed to identify women with heavy menstrual bleeding(HMB) and to assess its impact on quality of life. The aim of our study was to evaluate the validity and reliability of the Turkish adaptation of this scale for the adolescent age group.

Resistance to thyroid hormone beta (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The study aimed to evaluate the clinical, laboratory features and genotype-phenotype relationship of Turkish patients with RTHβ.

Pseudohypoaldosteronism (PHA) is a rare disorder that, if not promptly recognized and treated, can lead to life-threatening hyperkalemia resulting in cardiac arrest and death. Systemic PHA is caused by variants that deactivate the epithelial sodium channel (ENaC) subunits. Management is challenging due to high-dose oral replacement therapy, and patients with systemic PHA require lifelong treatment. Here, we present the clinical course of a newborn diagnosed with PHA at 7 days of age due to severe dehydration, inadequate feeding, vomiting, and lethargy. The patient was found to be homozygous for the variant c.1234dup (p.Glu412Glyfs*39) in exon 8 of the gene. The patient had multiple hospitalizations during follow-up and died at the age of 10 months due to pneumonia. Maintaining a high clinical suspicion for PHA is crucial for initiating treatment and preventing potential cardiac arrest and death in these patients. Further research is needed to determine the significance of such novel mutations in this disease.