Normal bone density in male pseudohermaphroditism due to 5alpha- reductase 2 deficiency

Abstract

RHCFAP/3050COSTA EMF et al. -Normal bone density in male pseudohermaphroditism due to 5α-reductase 2 deficiency. Rev. Hosp. Clín. Bone is an androgen-dependent tissue, but it is not clear whether the androgen action in bone depends on testosterone or on dihydrotestosterone. Patients with 5α-reductase 2 deficiency present normal levels of testosterone and low levels of dihydrotestosterone, providing an in vivo human model for the analysis of the effect of testosterone on bone.Objective: To analyze bone mineral density in 4 adult patients with male pseudohermaphroditism due to 5α-reductase 2 deficiency.Results: Three patients presented normal bone mineral density of the lumbar column (L1-L4) and femur neck, and the other patient presented a slight osteopenia in the lumbar column.Conclusion: Patients with dihydrotestosterone deficiency present normal bone mineral density, suggesting that dihydrotestosterone is not the main androgen acting in bone.DESCRIPTOR: Bone mineral density. Male pseudohermaphroditism. 5α-reductase type 2 deficiency.

Bone Health in Disorders of Sex Differentiation

“…Therefore, patients with phenotypes resembling AIS but affected by other 46,XY DSD might have been included. In these patients, BMD may have not been altered, as suggested by the results in subjects with 5 ␣ -reductase-2 deficiency, showing normal BMD [Costa et al, 2001;Sobel et al, 2006;Danilovic et al, 2007]. Thus, testosterone itself, or even the low-levels of dihydrotestosterone present in 5 ␣ -reductase-2 deficiency, seems to be sufficient for normal BMD when AR function is not impaired [Sobel et al, 2006].…”

“…BMD in individuals with 46,XY DSD has been measured mainly in CAIS, but some data are available for individuals with partial AIS (PAIS), 5 ␣ -reductase-2 deficiency and 46,XYGD [Muñoz-Torres et al, 1995;Soule et al, 1995;Vered et al, 1997;Bertelloni et al, 1998;Mizunuma et al, 1998;Marcus et al, 2000;Costa et al, 2001;Tian et al, 2005;Sobel et al, 2006;Danilovic et al, 2007;Dati et al, 2008;Han et al, 2008;Taes et al, 2009]. Results are summarized in table 1 .…”

“…However, some limitations exist. Data on BMD were mostly collected in single individuals or small samples of patients [Muñoz-Torres et al, 1995;Soule et al, 1995;Vered et al, 1997;Bertelloni et al, 1998;Mizunuma et al, 1998;Costa et al, 2001;Danilovic et al, 2007;Taes et al, 2009] or obtained by cumulating results collected with different bone scanners [Marcus et al, 2000], so introducing some difficulties in the interpretation of the data. In addition, BMD measurements were obtained in heterogeneous populations regarding gonadal status and/or substitutive therapy, with the diagnosis sometimes relying only on clinical and/or endocrine features, because mutational analysis of the AR have not been performed in all of the studies ( table 1 ).…”

Disorders of sex development: Hormonal management in adolescence

“…Therefore, patients with phenotypes resembling AIS but affected by other 46,XY DSD might be included. In such patients skeletal phenotype may be not affected, as suggested by sparse data in subjects with 5a-reductase deficiency [39,40]. Subjects with partial AIS did not show a large impairment of BMD [37], suggesting that partial activity of the androgen receptor may be sufficient for bone mineralization when sex steroid supplementation is adequate.…”

“…Bone mineral density (BMD) has been assessed mainly individuals with AIS [29,[33][34][35][36][37][38][39]; some authors have also reported BMD in individuals with 5a-reductase deficiency [39,40]. The main results are summarized in Table IX.…”