Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency

The aim of this study was to search for clinical and laboratorial data in 46,XY patients with ambiguous genitalia (AG) and normal testosterone (T) synthesis that could help to distinguish partial androgen insensitivity syndrome (PAIS) from 5α-reductase type 2 deficiency (5α-RD2) and from cases without molecular defects in the AR and SRD5A2 genes. Fifty-eight patients (51 families) were included. Age at first evaluation, weight and height at birth, consanguinity, familial recurrence, severity of AG, penile length, LH, FSH, T, dihydrotestosterone (DHT), Δ4-androstenedione (Δ4), and T/DHT and T/Δ4 ratios were evaluated. The AR and SRD5A2 genes were sequenced in all cases. There were 9 cases (7 families) of 5α-RD2, 10 cases (5 families) of PAIS, and 39 patients had normal molecular analysis of SRD5A2 and AR genes. Age at first evaluation, birth weight and height, and T/DHT ratio were lower in the undetermined group, while penile length was higher in this group. Consanguinity was more frequent and severity of AG was higher in 5α-RD2 patients. Familial recurrence was more frequent in PAIS patients. Birth weight and height, consanguinity, familial recurrence, severity of AG, penile length, and T/DHT ratio may help the investigation of 46,XY patients with AG and normal T synthesis

Brazilian Pediatric Reference Data for Quantitative Ultrasound of Phalanges According to Gender, Age, Height and Weight

<div><p>Aims</p><p>To establish normative data for phalangeal quantitative ultrasound (QUS) measures in Brazilian students.</p><p>Methods</p><p>The sample was composed of 6870 students (3688 females and 3182 males), aged 6 to 17 years. The bone status parameter, Amplitude Dependent Speed of Sound (AD-SoS) was assessed by QUS of the phalanges using DBM Sonic BP (IGEA, Carpi, Italy) equipment. Skin color was obtained by self-evaluation. The LMS method was used to derive smoothed percentiles reference charts for AD-SoS according to sex, age, height and weight and to generate the L, M, and S parameters.</p><p>Results</p><p>Girls showed higher AD-SoS values than boys in the age groups 7–16 (p<0.001). There were no differences on AD-SoS Z-scores according to skin color. In both sexes, the obese group showed lower values of AD-SoS Z-scores compared with subjects classified as thin or normal weight. Age (r² = 0.48) and height (r² = 0.35) were independent predictors of AD-SoS in females and males, respectively.</p><p>Conclusion</p><p>AD-SoS values in Brazilian children and adolescents were influenced by sex, age and weight status, but not by skin color. Our normative data could be used for monitoring AD-SoS in children or adolescents aged 6–17 years.</p></div

AD-SoS Z-scores according to skin color and weight status.

<p>^a Significant differences from obese, p<0,001</p><p>^b Significant differences from overweight, p<0,001</p><p>^c Significant differences from obese, p<0,05</p><p>^d Significant differences from overweight, p<0,01.</p><p>AD-SoS Z-scores according to skin color and weight status.</p

General characteristics of the sample.

<p>^aDifferences between sexes, p<0.001, Mann-Whitney Test.</p><p>^bWeight status established according to BMI Z-score cut-offs defined by IOTF: Thinness: <-1.01 and <0.98; Normal: between -1.01 to 1.30 and -0.98 to 1.23; Overweigh: between 1.31 to 2.28 and 1.24 to 2.18 and Obese: >2.28 and >2.18 for boys and girls, respectively.</p><p>General characteristics of the sample.</p

Linear (solid line) and cubic (dotted line) relationship between AD-SoS and BMI for girls and boys.

<p>Linear (solid line) and cubic (dotted line) relationship between AD-SoS and BMI for girls and boys.</p

Relationship of AD-SoS (left panel) and AD-SoS Z-score (right panel) versus independents variables for total sample and divided by weight categories in boys.

<p>Relationship of AD-SoS (left panel) and AD-SoS Z-score (right panel) versus independents variables for total sample and divided by weight categories in boys.</p

Smoothed percentile charts of AD-SoS for girls according to age (year), height (cm) and weight (kg).

<p>Smoothed percentile charts of AD-SoS for girls according to age (year), height (cm) and weight (kg).</p

Relationship of AD-SoS (left panel) and AD-SoS Z-score (right panel) versus independents variables for total sample and divided by weight categories in girls.

<p>Relationship of AD-SoS (left panel) and AD-SoS Z-score (right panel) versus independents variables for total sample and divided by weight categories in girls.</p