Abstract
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.
Highlights
Patients with undermasculinization (46,XY disorders of sex development (DSD)), which can be difficult in most cases [1, 8, 12]
46,XY DSD due to 5α-reductase type 2 deficiency, partial androgen insensitivity syndrome (PAIS), and disorders in testosterone synthesis may be indistinguishable in newborns [1,2,3,4,5,6, 8, 12]
5α-reductase type 2 deficiency should be established as soon as possible because individuals with PAIS are usually recommended to be raised as females, whereas those with
Summary
The disorders of sex development (DSD) with sex ambiguity and 46,XY karyotype can be classified in three main groups:(1) disorders of gonadal development (ovotesticular DSD and partial gonadal dysgenesis), (2) disorders of testosterone synthesis (testosterone biosynthesis defects like steroidogenic acute regulatory protein (STAR) deficiency, side-chain cleavage (CYP11A1) deficiency, 3β-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency, 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency, 17β-hydroxysteroid dehydrogenaseIII (HSD17B3) deficiency, P450 oxidoreductase (POR) defect; cytochrome b5 (CYB5) defect, and defects in luteinizing hormone action (LHCGR defect)), and (3) disorders of testosterone action [partial (PAIS) androgen insensitivity syndromes] or metabolization (5α-reductase type 2 deficiency) [1].The main diagnosis for patients with ambiguous genitalia and 46,XY karyotype (46,XY DSD) with normal testosterone secretion and normal Müllerian duct regression is PAIS or5α-reductase type 2 deficiency. The disorders of sex development (DSD) with sex ambiguity and 46,XY karyotype can be classified in three main groups:. (1) disorders of gonadal development (ovotesticular DSD and partial gonadal dysgenesis), (2) disorders of testosterone synthesis (testosterone biosynthesis defects like steroidogenic acute regulatory protein (STAR) deficiency, side-chain cleavage (CYP11A1) deficiency, 3β-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency, 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency, 17β-hydroxysteroid dehydrogenase. III (HSD17B3) deficiency, P450 oxidoreductase (POR) defect; cytochrome b5 (CYB5) defect, and defects in luteinizing hormone action (LHCGR defect)), and (3) disorders of testosterone action [partial (PAIS) androgen insensitivity syndromes] or metabolization (5α-reductase type 2 deficiency) [1]. The main diagnosis for patients with ambiguous genitalia and 46,XY karyotype (46,XY DSD) with normal testosterone secretion and normal Müllerian duct regression is PAIS or.
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