Post-pubertal female psychosexual orientation in incomplete male pseudohermaphroditism type 2 (5α-reductase deficiency)

Cantú, J. M.; Corona-Rivera, E.; Diaz, Marta; Esquinca, E.; Cortés-Gallegos, V.; Vaca, G; Hernández, A.

doi:10.1530/acta.0.0940273

Cited by 16 publications

(5 citation statements)

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“…The mean plasma DHT level was decreased, however, and the mean T to DHT ratio was elevated. The degree of elevation of the individual plasma T to DHT ratios, however, was not as marked or as universal in the TF subjects from this pedigree compared to the plasma T to DHT ratios of the male pseudohermaphrodites with primary 5a-reductase deficiency (11)(12)(13)(14)(15)(16)(33)(34)(35). Kuttenn et al (34) noted an abnormal plasma T to DHT ratio in 3 unrelated subjects with complete androgen insensitivity.…”

Section: Discussionmentioning

confidence: 75%

Hormonal Evaluation of a Large Kindred with Complete Androgen Insensitivity: Evidence for Secondary 5α-Reductase Deficiency*

Imperato‐McGinley

Peterson

Gautier

et al. 1982

The Journal of Clinical Endocrinology & Metabolism

122

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Seventeen individuals from a pedigree with complete androgen insensitivity, [testicular feminization (TF)] are presented. Their hormonal evaluation was compared with those of normal males and male pseudohermaphrodites with primary 5a-reductase deficiency. The mean plasma testosterone to dihydrotestosterone ratio was 12 ± 3 in normals, 24 ± 8 in TF subjects (P < 0.001), and 41 ± 14 (P < 0.001) in 5a-reductasedeficient subjects. In 4 TF subjects the MCRs for testosterone and dihydrotestosterone were normal. The dihydrotestosterone blood production rate averaged 383 jug/day in normals, 162 jig/ day in TF subjects, and 86 /ig/day in 5a-reductase-deficient subjects. The conversion ratio of testosterone to dihydrotestosterone averaged 2.53 in normals, 1.8 in TF subjects, and 0.63 in 5a-reductase-deficient subjects. The mean plasma estradiol level was 2.8 ± 1.0 ng/100 ml in normal males, 4.8 ± 1.3 ng/100 ml (P < 0.001) in TF subjects, and 3.1 ± 1.3 ng/100 ml (P < 0.5) in 5a-reductase-deficient subjects. The fractional plasma protein binding of testosterone in TF subjects and 5a-reductase-deficient subjects was similar to that in normal males. The mean urinary etiocholanolone to androsterone ratio was 0.87 ± 0.34 in normals, 1.28 ± 0.46 (P < 0.001) in TF subjects, and 4.90 ± 2.15 (P < 0.001) in 5a-reductase-deficient subjects. The mean urinary ratio of 5/?-tetrahydrocorticosterone to 5a-tetrahydrocorticosterone was 0.53 ± 0.22 in normal males, 0.76 ± 0.21 in TF subjects (P < 0.02), and 4.59 ± 4.5 (P < 0.001) in 5a-reductase-deficient subjects. The mean urinary 5/?-tetrahydrocortisol to 5a-tetrahydrocortisol ratio was in the normal male range in the TF subjects, but was markedly elevated in the 5a-reductase-deficient subjects. The data suggest that in the TF subjects, there is a decrease in peripheral 5a-reductase activity related to C-19 androgen 5a-metabolism, which is a secondary manifestation of androgen resistance. This differs from the situation in the male pseudohermaphrodites with 5a-reductase deficiency, where the defect affects hepatic and peripheral 5a-reduction with a marked decrease in both 5a C-19 and C-21 metabolites. (J Clin EndocrinolMetab 54: 931, 1982)

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Section: Discussionmentioning

confidence: 75%

Hormonal Evaluation of a Large Kindred with Complete Androgen Insensitivity: Evidence for Secondary 5α-Reductase Deficiency*

Imperato‐McGinley

Peterson

Gautier

et al. 1982

The Journal of Clinical Endocrinology & Metabolism

122

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“…There have also been limited studies that have analyzed the testicular histology of 5αRD patients during childhood, adolescence, and young adulthood (Nos.7–27 in Table 2 ) ( 13 , 14 , 16 , 20 , 21 , 22 , 23 , 24 ). As shown in Table 2 , germ cells were present during childhood irrespective of the presence of cryptorchidism, whereas during adolescence, there is evidence of the lack of germ cells in those accompanied by cryptorchidism (Nos.…”

Section: Discussionmentioning

confidence: 99%

Histological analysis of testes in patients with 5 alpha-reductase deficiency type 2: Comparison with cryptorchid testes in patients without endocrinological abnormalities and a review of the literature

Wada

Ichikawa

Takeuchi

et al. 2022

Clin Pediatr Endocrinol

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. As evidenced by the intact histology of the testes during infancy, testicular differentiation during the prenatal period occurs normally in individuals with 5 alpha-reductase type 2 deficiency (5αRD); however, a majority of these individuals suffer from azoospermia or oligospermia during adulthood, indicating that impaired spermatogenesis occurs postnatally. Although the accompanying cryptorchidism may be partly responsible for this process, the underlying mechanisms remain largely unknown. To address this issue, we retrospectively compared the histological findings of descended testes in a 3-mo-old patient and undescended testes in an 18-yr-old patient with 5αRD. In the latter, testicular histology was compared to that of cryptorchid testes obtained from five adolescent patients without endocrinological abnormalities. Histological findings of a 3-mo-old patient revealed normal number of germ cells with intact seminiferous tubules. In contrast, an 18-yr-old patient showed marked reduction in germ cell number and atrophic seminiferous tubules. The findings were very similar to those observed in cryptorchid testes without endocrinological abnormalities. These findings suggest that the decrease in germ cells in 5αRD patients may be at least partly caused by accompanying cryptorchidism. As the number of germ cells did not decrease during the infantile period, early orchiopexy is recommended to prevent a decrease in germ cell number and preserve fertility.

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“…To our knowledge, we present the first testicular histological description in a postpubertal patient, with a genetic confirmation of the 5α-R2 deficiency. Indeed, the eight previous publications (Table 1) describing with more or less details the testicular histology in postpubertal patients, putatively affected by this pathology, are relatively old and lack any information related to patients SRD5A2 gene analysis [5,19-25]. …”

Section: Discussionmentioning

confidence: 99%

Testicular histological and immunohistochemical aspects in a post-pubertal patient with 5 alpha-reductase type 2 deficiency: case report and review of the literature in a perspective of evaluation of potential fertility of these patients

et al. 2014

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BackgroundTesticular morphology and immunohistochemical studies have never been reported in genetically documented adult patients with 5 alpha-reductase type 2 deficiency (5α-R2 deficiency).Case presentationWe describe the testicular histopathology of a 17-year-old XY subject with 5α-R2 deficiency caused by the recurrent homozygous Gly115Asp loss of function mutation of the SRD5A2 gene.We also performed an immunohistochemical analysis in order to further study the relationship between seminiferous tubules structure, Sertoli cell differentiation and androgenic signaling impairment in this case. We thus evaluated the testicular expression of the anti-Müllerian hormone (AMH), androgen receptor (AR) and 3β-hydroxysteroid dehydrogenase (3βHSD). Histological analysis revealed a heterogeneous aspect with a majority (92%) of seminiferous tubules (ST) presenting a mature aspect but containing only Sertoli cells and devoid of germ cells and spermatogenesis. Focal areas of immature ST (8%) were also found. Testicular AR and 3βHSD expression were detected in adult male control, 5α-R2 deficiency and CAIS subjects. However, AMH expression was heterogeneous (detectable only in few AR negative prepubertal ST, but otherwise repressed) in the 5α-R2 deficiency, conversely to normal adult testis in which AMH was uniformly repressed and to an adult CAIS testis in which AMH was uniformly and strongly expressed.ConclusionIntratesticular testosterone can repress AMH by itself, independently of its metabolism into dihydrotestosterone. We also compare our results to the few post pubertal cases of 5α-R2 deficiency with available histological testicular description, reported in the literature. We will discuss these histological findings, in the more general context of evaluating the fertility potential of these patients if they were raised as males and were azoospermic.

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Post-pubertal female psychosexual orientation in incomplete male pseudohermaphroditism type 2 (5α-reductase deficiency)

Cited by 16 publications

References 0 publications

Hormonal Evaluation of a Large Kindred with Complete Androgen Insensitivity: Evidence for Secondary 5α-Reductase Deficiency*

Hormonal Evaluation of a Large Kindred with Complete Androgen Insensitivity: Evidence for Secondary 5α-Reductase Deficiency*

Histological analysis of testes in patients with 5 alpha-reductase deficiency type 2: Comparison with cryptorchid testes in patients without endocrinological abnormalities and a review of the literature

Testicular histological and immunohistochemical aspects in a post-pubertal patient with 5 alpha-reductase type 2 deficiency: case report and review of the literature in a perspective of evaluation of potential fertility of these patients

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