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Introduction: Aromatase inhibitors (AIs) have been used to slow down estrogen-dependent skeletal maturation in pubertal boys with short stature. In the literature, few data evaluate the effectiveness and safety of AIs in boys with growth hormone deficiency (GHD). This study aimed to evaluate the auxologic effects and short-term laboratory profiles of combined AI and rhGH therapy for 1 year in adolescent males with GHD. Subjects and methods: Male subjects between the ages of 10 and 16 with GHD from two different centers were included in the study. Patients were divided into two groups: (i) those who only used recombinant human growth hormone (rhGH) therapy (Group I; G-I) and (ii) those who also used AI therapy (anastrozole or letrozole) along with rhGH (Group II; G-II). Results: Forty-one patients (G-I, 46%; G-II, 54%) were included in the study. All the subjects had isolated GHD. At the beginning of the treatment, the chronological ages (CAs) of the patients in the G-I and G-II groups were 11.8 (10.9–13.7) and 12.8 (12.0–14.3) years, respectively. The ratios of bone age (BA)/CA for the two groups were 0.8 (0.8–0.9) and 1.0 (0.9–1.1), respectively (p< 0.001). After the treatment, the height standard deviation (SD) scores and predicted adult height (PAH) significantly increased from baseline in all subjects in the G-I and G-II groups (p< 0.001; p< 0.001, respectively). There was no significant change in the ratio of BA/CA post-therapy in the G-I group (p= 0.1), while there was a significant decrease in the G-II group (p< 0.001). The growth velocities of the patients in the G-I and G-II groups were 9.1 (7.4–10.1) cm/year [1.5 (0.8–5.0) SD score] and 8.7 (7.5–9.9) cm/year [1.1 (0.3–3.1) SD score], respectively (p= 0.6). While post-therapy serum testosterone concentrations were seen to increase in the G-II group, none of the patients exhibited hematocrit above 50 percent, and the fasting glucose concentrations were normal. Conclusions: When used in addition to rhGH therapy in boys with GHD and advanced BA, AIs were observed to slow down the tempo of BA maturation after 1 year, compared to those who received rhGH treatment alone. AI therapy was found to be safe during the 1-year observation period and thus could be considered for preserving growth potential in these patients.

Studies regarding genetic and clinical characteristics, gender preference, and gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5α-RD2) are limited and they were conducted on small number of patients. To present genotype–phenotype correlation, gonadal malignancy risk, gender preference, and diagnostic sensitivity of serum testosterone/dihydrotestosterone (T/DHT) ratio in patients with 5α-RD2. Patients with variations in the SRD5A2gene were included in the study. Demographic characteristics, phenotype, gender assignment, hormonal tests, molecular genetic data, and presence of gonadal malignancy were evaluated. A total of 85 patients were included in the study. Abnormality of the external genitalia was the most dominant phenotype (92.9%). Gender assignment was male in 58.8% and female in 29.4% of the patients, while it was uncertain for 11.8%. Fourteen patients underwent bilateral gonadectomy, and no gonadal malignancy was detected. The most frequent pathogenic variants were p.Ala65Pro (30.6%), p.Leu55Gln (16.5%), and p.Gly196Ser (15.3%). The p.Ala65Pro and p.Leu55Gln showed more undervirilization than the p.Gly196Ser. The diagnostic sensitivity of stimulated T/DHT ratio was higher than baseline serum T/DHT ratio, even in pubertal patients. The cut-off values yielding the best sensitivity for stimulated T/DHT ratio were ≥ 8.5 for minipuberty, ≥ 10 for prepuberty, and ≥ 17 for puberty. There is no significant genotype–phenotype correlation in 5α-RD2. Gonadal malignancy risk seems to be low. If genetic analysis is not available at the time of diagnosis, stimulated T/DHT ratio can be useful, especially if different cut-off values are utilized in accordance with the pubertal status.

This study aimed to set up a practical lab-side approach to discriminate fetal from maternal blood in samples obtained by cordocentesis. To determine the fetal origin of the blood, a modified Apt test was applied to 30 cases of prenatal diagnosis. A change of colour of the fetal and adult blood during the procedure was the hallmark to assess fetal origin. At the end of 60 s of the test, fetal blood yielded a pink colour whereas adult blood was dark green-brown. The test was repeated in mixtures of fetal and adult blood. The results suggest that the modified Apt test is a practical, quick, inexpensive, and efficient test to determine the origin of blood samples obtained by cordocentesis. However, it should be kept in mind that samples containing a mixture of both fetal and adult blood could also yield a fetal blood reaction. When maternal contamination is suspected, we propose that at least 30 metaphases from different slides should be counted. This could yield fetal as well as maternal chromosomes. © 1997 John Wiley & Sons, Ltd.

This study aimed to set up a practical lab‐side approach to discriminate fetal from maternal blood in samples obtained by cordocentesis. To determine the fetal origin of the blood, a modified Apt test was applied to 30 cases of prenatal diagnosis. A change of colour of the fetal and adult blood during the procedure was the hallmark to assess fetal origin. At the end of 60 s of the test, fetal blood yielded a pink colour whereas adult blood was dark green‐brown. The test was repeated in mixtures of fetal and adult blood. The results suggest that the modified Apt test is a practical, quick, inexpensive, and efficient test to determine the origin of blood samples obtained by cordocentesis. However, it should be kept in mind that samples containing a mixture of both fetal and adult blood could also yield a fetal blood reaction. When maternal contamination is suspected, we propose that at least 30 metaphases from different slides should be counted. This could yield fetal as well as maternal chromosomes. © 1997 John Wiley & Sons, Ltd.

Hyperoxaluria is characterized by nephrocalcinosis and nephrolithiasis on radiological examination and may also result in diffuse deposition of calcium oxalate crystals in multiple extrarenal organs (oxalosis). In two cases, the renal findings of primary hyperoxaluria were diagnosed by ultrasound and computed tomography scans. In addition to renal involvement, both patients had liver involvement, and one patient had cardiac involvement.