21-hydroxylase deficiency stands as the most prevalent form of congenital adrenal hyperplasia, primarily resulting from mutations in the CYP21A2 gene. On the other hand, mutations within the CYP17A1 gene lead to 17 alpha-hydroxylase/17,20-lyase enzyme deficiencies. The scarcity of 17-OH deficiency is noteworthy, accounting for less than 1% of all congenital adrenal hyperplasia cases. The male patient, born from a first-degree cousin marriage, exhibited several symptoms, including left undescended testis, micropenis, penile chord, left sensorineural hearing loss, and gynecomastia. He reported micropenis as a concern at the age of 13.5 years. His hormone profile revealed high levels of serum 17-hydroxyprogesterone, progesterone, and pregnenolone. In this case with a 46 XY karyotype, suspicions arose regarding Cytochrome P450 oxidoreductase deficiency due to ambiguous genitalia and an atypical hormone profile. Analysis unveiled two distinct homozygous and pathogenic variants in the CYP21A2 and CYP17A1 genes. Notably, mineralocorticoid precursors escalated, while cortisol and sex steroid precursors decreased during the high (250 mcg) dose ACTH stimulation test. The mutation c.1169C > G (p.Thr390Arg) in CYP17A1, which is the second documented case in literature, stands out due to its unique set of accompanying features. Mutations occurring in CYP21A2 and CYP17A1 result in complete or partial enzyme deficiencies, and the detection of homozygous mutations in two different enzyme systems within the steroidogenic pathway is noteworthy.

Objectives: The effects of thyroid hormones on body composition are well-known. We aimed to examine the body composition of children with and without Hashimoto’s thyroiditis (HT) by bioelectrical impedance analysis (BIA) while they were still euthyroid. Methods: Between the ages of 5 and 18, 53 girls and 12 boys in each group, 65 children with HT, and 65 healthy children were included in this study. The Tanita MC-780 MA model was used to evaluate body composition parameters. These are fat mass (FM), fat-free mass (FFM), muscle mass (MM), bone mass (BM), total body water (TBW), phase angle, the ratio of muscle mass to fat mass (MFR), basal metabolic rate (BMR), and sarcopenic index (SI). Weight, height, body mass index standard deviation scores (SDSs), and pubertal status were examined. Additionally, TSH, Free-T4, Free-T3, Anti-TPO, Anti-Tg, serum lipid levels, and thyroid volumes were compared. Results: We observed that TBW (27.5 ± 7.5 kg vs. 24.8 ± 6.6 kg; p=0.029) and BMR (1,403 ± 253 kcal vs. 1,324 ± 200 kcal; p=0.049) were higher in the HT group. These differences are due to differences in age and muscle mass in the male group. The FM, FFM, MM, BM, MFR, SI, and phase angle scores did not differ between females with and without HT in euthyroid children by the BIA method. Conclusions: There is no significant change in body composition in euthyroid females with HT at admission.

Objectives: Clinical (assessing breast development), laboratory (FSH, LH, estradiol, and GnRH stimulation test), and radiological methods (bone age and pelvic ultrasonography) are used to distinguish central precocious puberty (CPP) from premature thelarche (PT). We examined also via bioelectrical impedance analysis (BIA). Methods: The fat mass (FM), fat-free mass (FFM), muscle mass (MM), bone mass (BM), total body water, and percentages (%), basal metabolic rate, phase angle (PhA), muscle-to-fat ratio (MFR), sarcopenic index, and segmental body proportions were determined via Tanita MC-780 MA model measuring device. Results: A total of 111 girls, 34 with CPP, 35 with PT, and 42 with healthy controls, were included. Although the baseline weight, height, and BMI SDS of the groups were not statistically different, the FM (%) was found to be lower (p=0.021), and the FFM (%) (p=0.021), MM (%) (p=0.015), BM (%) (p=0.022), and MFR values (p=0.017) were higher in CPP group. In CPP group, right arm FM (%) (p=0.016), left arm FM (%) (p=0.007), and trunk FM (%) (p=0.008) were lower than other groups. Conclusions: We detected a MFR cutoff value of (2.96) with 58.8 % sensitivity and 58.4 % specificity, a cutoff value of (3.57) with 50 % sensitivity and 82 % specificity to differentiate CPP cases from others (PT and healthy controls). These rates are relatively low, but these are the first results in this field and may be guiding for studies conducted in large series.