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Context: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as well as an increased mineralocorticoid effect. Aim: This study aimed to evaluate the clinical, biochemical, and molecular characteristics of patients with 17OHD and to discuss the diagnosis, treatment, and follow-up process. Methods: Age, symptoms, anthropometric measurements, blood pressure, and hormonal, biochemical, and chromosomal analysis results of 13 patients diagnosed with 17OHD between 2003 and 2022 were recorded at admission and during follow-up. Whole gene next-generation sequencing was performed for the CYP17A1 gene. Multiplex ligation-dependent probe amplification was used to detect deletions in patients without point mutations in CYP17A1. Results: The median age at diagnosis was 14.0 (3.5–16.8) years. Nine of 13 patients (69.2%) had 46,XY karyotypes. All patients were phenotypically female and were raised as girls. The most common reasons for admission were the absence of puberty and amenorrhea (n = 8, 61.5%), followed by hypertension (n = 3, 23.0%), and family screening (n = 2, 15.3%). At the time of diagnosis, hypertension was detected in 10 (76.9%) patients, and 11 (84.6%) patients had hypokalemia. Conclusions: 17OHD should be considered in patients with pubertal delay/primary amenorrhea, hypertension, and hypokalemia. Adrenal function should be included in the clinical study of hypergonadotropic hypogonadism, after excluding Turner syndrome, in all 46,XX females. Deletion in the CYP17A1 gene, including exons 1–6, is the founder mutation for Turkey's east and southeast regions. [ABSTRACT FROM AUTHOR]

Distal renal tubular acidosis (dRTA) may rarely occur in the course of autoimmune diseases. We present a patient who was followed up with Graves' disease and vitiligo and who was diagnosed with dRTA upon detection of hypopotasemia. A 9.2-year-old girl presented with complaints of sweating, palpitations, and hand tremors. The patient had vitiligo on examination and was diagnosed with Graves' disease per clinical and laboratory findings. The patient, who received methimazole and was followed up as a euthyroid, was found to have hypokalemia in biochemical examinations performed at the age of 13 years. While investigating the etiology of hypokalemia, the patient was diagnosed with dRTA. Since she had two autoimmune pathologies, it was thought that the dRTA might be of autoimmune origin. Checking serum potassium levels in the follow-up of patients with Graves' disease may allow early diagnosis and treatment of accompanying dRTA. [ABSTRACT FROM AUTHOR]

Aim: Although Disorders of sex development (DSD) are not a common pathology, they are destructive for individuals, families and society and require serious effort for the health personnel who treat and follow these patients. This study aims to evaluate the clinical, laboratory, genetic and radiological findings of our twenty-year series with DSD patients and to reveal remarkable issues. Materials and Methods: This retrospective study and DSD patients who were detected were divided into three groups according to the Chicago classification. In this study, there were a total of 92 patients with DSD in the hospital records from 1999 to 2019 and all the data obtained were evaluated descriptive statistical. The distributions of the qualitative data were expressed by count and percentage in frequency tables. Results: The mean presentation age of 92 patients with DSD was 9.45 ± 6.81. These patients were admitted due to suspicious genitalia. Twenty-five out of all patients (27.1%) had sex chromosome DSD patients. The mean presentation age of these patients was 15 ± 0.83 years. We examined the etiologies of thirty-four 46 XY DSD patients. Totally 12 patients had androgen-insensitive syndrome. In our study we found thirty-three, 46 XX karyotypes DSD patients. Twenty seven out of the patients in the same group were found to have congenital adrenal hyperplasia (CAH). Conclusion: The differences in DSD patients maybe are not noticed by both the family and the doctors they first consult. DSD patients may be diagnosed late and genetic analysis may be delayed because the first admission to these patients is delayed. These patients maybe are raised in different genders until they are diagnosed by their specialists. The delay in the diagnosis of the patient may also affect the content of the surgical procedure performed. DSD should be considered in every child who presents with suspicious genital anomalies. [ABSTRACT FROM AUTHOR]

Aim: The COVID-19 pandemic is a global health problem with high morbidity and mortality. This study aimed to compare the clinical features of newly diagnosed type 1 diabetes (T1D) patients during the pandemic with those diagnosed earlier and evaluate how the pandemic affected the T1D clinical findings on admission. Materials and Methods: This is a 2-year, single-center, cross-sectional study. The time between March 11, 2019, and March 11, 2020, was defined as the "pre-pandemic period," while the interval between March 11, 2020, and March 11, 2021, was called the "pandemic period." The clinical and laboratory parameters of newly diagnosed T1D patients admitted in these two time periods were compared. Results: The admission rate with DKA was higher in the pandemic period than in the pre-pandemic time (71.0% and 52.8%, respectively, p=0.046). There was no difference between the groups regarding the severity of DKA. The mean duration of diabetes symptoms before diagnosis was longer during the pandemic than in the pre-pandemic period (17.0 days and 12.5 days, respectively, p=0.035). Conclusion: Delayed admissions to health institutions of patients with diabetes signs and symptoms during the pandemic are worrisome. This delay is likely to have increased the DKA rate during the pandemic. As a result, children with diabetes symptoms should be ensured to apply to a health institution without hesitation, even in the pandemic. [ABSTRACT FROM AUTHOR]

Indicators of increased risk for type 1 diabetes (T1DM) are specific antibodies that are mainly immune markers. Islet cell antibody (ICA), insulin autoantibody (IAA), glutamic acid decarboxylase enzyme antibody (GADA) and HgA1c are also used in the diagnosis and follow-up of patients with type 1 diabetes mellitus. ICA, IAA, GADA, HbA1c were checked at the time of diagnosis and at 6-month intervals in pediatric patients monitored with T1DM. Decreased ICA, GADA and HbA1c levels were evaluated as good blood glucose control and good clinical response. Patients aged ≤5 years had a higher rate of IAA and patients aged >5 years had a higher rate of ICA. Antibody selection according to age during diabetes screening was found to be significant in terms of cost. [ABSTRACT FROM AUTHOR]