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Background: Inhibin B is a hormone produced by the Sertoli cells that can provide important information for the investigation of disorders of sex development (DSD) with 46,XY karyotype. The aim of this study is to compare two enzyme-linked immunosorbent assay (ELISA) assays for dosage of serum inhibin B in patients with 46,XY DSD with normal testosterone secretion., Methods: Twenty-nine patients with 46,XY DSD and normal testosterone secretion (partial androgen insensitivity syndrome [PAIS] [n=8]; 5α-reductase deficiency [n=7] and idiopathic 46,XY DSD [n=14]) were included. Molecular analysis of the AR and SRD5A2 genes were performed in all patients and the NR5A1 gene analysis in the idiopathic group. Measurements of inhibin B were performed by two second-generation ELISA assays (Beckman-Coulter and AnshLabs). Assays were compared using the interclass correlation coefficient (ICC) and the Bland-Altman method., Results: ICC was 0.915 [95% confidence interval (CI): 0.828-0.959], however, a discrepancy was observed between trials, which is more evident among higher values when analyzed by the Bland-Altman method., Conclusions: It is recommended to perform the inhibin B measurement always using the same ELISA kit when several evaluations are required for a specific patient.

The aim of this study was to evaluate the physical measurements and body composition of female patients with the classic form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Twenty-eight girls with CAH were classified according to both hormonal control (well or not well controlled) and the clinical form of the disease (simple virilizing or salt-wasting). In the control group, 112 healthy individuals were included, divided into two subgroups (male and female). Both patients and controls were subdivided by age into three groups according to pubertal stage: < or =10 years (prepubertal), 11-15 years (pubertal), and > or =15 years (postpubertal). Anthropometrical evaluations and bioelectrical impedance were used to obtain the physical measurement and body composition data. The patients with the simple virilizing form presented higher values for BMI, waist, arm fat area, and fat mass percentage. The not well controlled group presented shorter leg length. Values obtained for BMI as well as for arm fat area, brachial circumference, waist, hip, bi-iliac diameter and fat mass percentage were significantly higher in the patients than in the controls, whereas leg length, hand size and the percentages of water and lean mass were lower. Alterations in body composition were observed in all age groups, mainly by increase of fat mass with age. After puberty, impairments in limb measurements (leg, hand and foot) were more evident. Patients with CAH presented differences in anthropometric parameters but mainly in body composition. Hence, more comprehensive and careful anthropometric evaluation during monitoring of patients with CAH is recommended.

21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11betaOHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 21OHD and 11betaOHD (AC21,11OHD) have been occasionally reported. A 6 year-old girl, born with ambiguous genitalia and salt-loss, had serum elevations (ng/dl) of androstenedione (>1,000), 17-hydroxyprogesterone (17OHP; 38,483), 21-deoxycortisol (21DF; 23,338), and 11-deoxycortisol (S; 4,928), suggesting AC21,11OHD. CYP21A and CYP11B1 genotyping identified mutations only in the former. On follow-up, serum S became normal but 17OHP and 21DF were still elevated. ACTH stimulation disclosed elevated levels of 17OHP and 21DF, but unresponsive S and undetectable deoxycorticosterone. The hormonal pattern initially suggested AC21,11OHD, but subsequent normalization of S showed transient 11-hydroxylase inhibition. This may have occurred by enzyme or co-enzyme immaturity or functional discrepancy, but also by selective inhibition of 11betaOH by excess intra-adrenal concentration of androgens, acting as pseudo-substrates for this enzyme.

Sex ambiguity may be due to several disorders of gonadal differentiation, including true hermaphroditism (TH), as well as male and female pseudohermaphroditism. Although TH is a rare cause of intersex in Europe and North America, in Africa it presents one of the highest frequencies. The 46,XX karyotype has been found in the majority of the reported patients (70.6%), and aberrations in the sex chromosomes have been observed in about 22% of the cases. The 46,XY karyotype has been described as less frequent. Herein we describe ten cases of TH which have been diagnosed over the last 7 years, six lateral TH, two unilateral TH, and two cases of ovotestes with absent contralateral gonad. From a total of 18 gonads analyzed, there were 8 testes, 6 ovaries and 4 ovotestes. Nine subjects had originally a male sex assignment, and in three cases this was reverted to female. Four cases had a 46,XY karyotype. Additional sex chromosome aberrations had been found in four different cases [two 46,XX/46,XY, one 45,X/47,XYY, one 46,X,del(Yq)]. A 46,XX karyotype was found in only two individuals, and both were SRY negative. Our preliminary data, especially on the constitution of chromosomes and gonads, indicate marked differences from those in the literature.