46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency

Mendonca, Berenice B.; Gomes, Nathália Lisboa; Costa, Elaine Maria Frade; Inácio, Marlene; Martin, Regina Matsunaga; Nishi, Mirian Yumie; Carvalho, Filomena Marino; Tibor, Francisco Denes; Domenice, Sorahia

doi:10.1016/j.jsbmb.2016.05.002

Cited by 82 publications

(84 citation statements)

References 46 publications

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“…Mutated enzymes have an absent or reduced ability to convert Δ4-androstenedione to testosterone in the testis [Mendonca et al, 2017]. The low testosterone/Δ4-androstenedione ratio represents the main endocrine abnormality in these patients, with a diagnostic sensitivity approaching 100% in adulthood ( Table 4 ) [Boehmer et al, 1999;Bertelloni et al, 2009;George et al, 2010].…”

Section: Hcg Test: Use In the Diagnostic Workup Of 46xy Dsdmentioning

confidence: 99%

Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development

Bertelloni

Russo

Baroncelli

2017

Sex Dev

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The human chorionic gonadotropin (hCG) test represents a key step in assessing Leydig cell function in prepubertal males, but differences in terms of hCG doses, number of injections, and sequence of blood drawing are published in the literature, showing poor standardization. The few available data in healthy boys are summarized here. A recombinant hCG (rhCG) formulation might permit overcoming some controversies as well as avoid the potential biological risk related to the injection of extractive hormones. Studies in humans are scarce, but they indicate that 250 µg rhCG in a single dose may represent a useful scheme for the dynamic evaluation of Leydig cell function in children as well as in adults. The main indication for hCG testing in childhood is the investigation of 46,XY disorders of sex differentiation. The test must also be considered in order to investigate the presence of functional testicular tissue when gonadal peptide hormones cannot be measured.

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Section: Hcg Test: Use In the Diagnostic Workup Of 46xy Dsdmentioning

confidence: 99%

Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development

Bertelloni

Russo

Baroncelli

2017

Sex Dev

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“…As is known from physiology, gynecomastia is common in HSD17B3 deficient adolescents affecting up to 30% of patients, but is only rarely observed in 5a reductase type 2 deficiency. 5,6 In conclusion, we may safely assume that the case described by Phlegon of Tralles was a 46,XY DSD-male pseudohermaphrodite presenting with heterosexual puberty. 5a reductase type 2 or HSD17B3 deficiency could account for this presentation, with the latter being more probable due to concurrent gynecomastia.…”

Section: Letter To the Editormentioning

confidence: 82%

“…Type 3 isoenzyme (HSD17B3) is expressed in the testes, while type 5 (HSD17B5) is mainly responsible for extragonadal production of testosterone. 6 Moreover, transcription regulation of the enzyme isoforms is age-dependent: HSD17B3 expression decreases, while HSD17B5 expression increases with age, making their respective roles more important in utero for HSD17B3 and in puberty for HSD17B5. 6 Hence, HSD17B3 deficiency may lead to ambiguous genitalia at birth, a feature which is reversed in adolescence by the normal action of HSD17B5.…”

Section: Letter To the Editormentioning

confidence: 99%

The male bride: a story of Sexual Female-to-Male Transformation at marriage from the Hellenistic period, recorded by Phlegon of Tralles

Barouti

Markantes

Armeni

et al. 2017

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“…Interestingly, FSH levels were also highly variable, and especially in patient 3 highly elevated, pointing towards a common testicular failure. In all patients, the testosterone to androstenedione ratio was significantly reduced (<0.8 according to [21-23]), giving biochemical evidence of 17β-HSD type 3 deficiency. …”

Section: Resultsmentioning

confidence: 99%

Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency

et al. 2016

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Background: 17β-hydroxysteroid dehydrogenase (17β-HSD) type 3 deficiency is an autosomal recessive disorder with diminished testosterone synthesis and consequently underandrogenisation. 46,XY patients with 17β-HSD type 3 deficiency are often assigned a female sex at birth but have a high virilisation potential at the time of puberty. Methods: We studied four 46,XY patients with 17β-HSD type 3 deficiency at puberty with regard to the underlying mutations, the hormone values, and the clinical findings. Results: Three patients were initially assigned a female sex and 1 was assigned a male sex. All had relevant mutations in the HSD17B3 gene. The 2 patients with deleterious mutations had lower testosterone values at the time of puberty than the patients with possible residual activity of 17β-HSD type 3. One of the latter patients changed to male gender. Conclusion: All 4 patients with 17β-HSD type 3 deficiency synthesized relevant amounts (>0.7 µg/L) of testosterone at puberty, which lead to variable androgenisation. In patients with presumable residual activity of the mutated enzyme, testosterone values in the male reference range can be achieved, thereby inducing male pubertal development. These patients should possibly be assigned a male sex. Any surgical intervention should be avoided until the patients are old enough to consider their options of medical and surgical intervention.

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46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency

Cited by 82 publications

References 46 publications

Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development

Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development

The male bride: a story of Sexual Female-to-Male Transformation at marriage from the Hellenistic period, recorded by Phlegon of Tralles

Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency

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46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency

Cited by 82 publications

References 46 publications

Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development

Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development

The male bride: a story of Sexual Female-to-Male Transformation at marriage from the Hellenistic period, recorded by Phlegon of Tralles

Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency

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Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency