The Dilemma of Sex Reassignment in an Adolescent with 17β-HSD-3 Deficiency Raised as a Female: Ten-Year Follow-Up

Liakopoulou, Magda; Keramydas, Dimitrios; Dracopoulou, Maria; Dacou-Voutetakis, Catherine

doi:10.1007/s10508-009-9484-8

Cited by 6 publications

(4 citation statements)

References 9 publications

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“…39 In that particular case, despite the degree of virilisation of the girl, her manly dressing and behaviour and disturbed emotional status, the final decision following extensive and longtime psychological evaluation was not to proceed to gender change but perform gonadectomy and hormonal replacement therapy, which was obviously successful. Gender role changes are estimated to occur in more than 50% of cases with 5α-reductase deficiency and 17β-HSD-3.…”

Section: Discussionmentioning

confidence: 98%

Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea

Skordis

Shammas

Efstathiou

et al. 2011

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The clinical spectrum of 5α-reductase deficiency, caused by mutations in the SRD5A2 gene, ranges from complete female appearance of the external genitalia at birth to nearly complete male phenotype. cAse rePOrt: A 14-year-old girl presented with primary amenorrhea (PA) and lack of breast development. she was 173 cm in height, had an increased amount of pubic hair and clitoromegaly (3 cm), with a 4 cm blind vaginal pouch. Gonads were palpable in the inguinal canal bilaterally and no uterus was identified on ultrasound. chromosomal analysis showed a 46,XY karyotype. the testosterone/DHt ratio was high (16.5) and further increased to 29.4 after stimulation with hcG, thus favouring the diagnosis of 5α-reductase deficiency. Since the issue of gender change was not considered, gonadectomy was performed followed by successful feminisation with hormonal replacement therapy. GeNetIc stUDIes: Molecular analysis of the SRD5A2 gene by DNA sequencing of all 5 exons revealed the presence of the splice mutation A>G at position -2 of the acceptor site of intron 1/exon 2 (Ivs1-2A>G) in homozygosity. both non-consanguineous parents were found to be heterozygotes for this mutation. cONcLUsIONs: Although rare, SRD5A2 gene defect should be suspected in any girl presenting with PA and virilisation at puberty. the Ivs1-2A>G mutation of the SRD5A2 gene predominates in Greek-Cypriot patients with 5α-reductase deficiency and very likely reflects a founder effect.

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Section: Discussionmentioning

confidence: 98%

Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea

Skordis

Shammas

Efstathiou

et al. 2011

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“…The phenomenon of founder effect is rather common in the Greek population, and several reports have documented examples of founder mutations in the Mediterranean basin ( 16 , 17 , 18 , 19 ). Many previously published reviews cluster the Greeks together with the Turks and the Syrians to show a founder effect regarding the 655-1;G®A mutation.…”

Section: Discussionmentioning

confidence: 99%

46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin

Galli-Tsinopoulou

Serbis

Kotanidou

et al. 2018

Jcrpe

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17-beta hydroxysteroid dehydrogenase type 3 (17βHSD-3) enzyme catalyzes the conversion of androstenedione (Δ4) to testosterone (T) in the testes of the developing fetus, thus playing a crucial role in the differentiation of the gonads and in establishing the male sex phenotype. Any mutation in the encoding gene (HSD17B3) can lead to varying degrees of undervirilization of the affected male, ranging from completely undervirilized external female genitalia to predominantly male with micropenis and hypospadias. We present here an infant who was referred to our clinic because of ambiguous genitalia at birth. Gonads were palpable in the inguinal canal bilaterally and no Müllerian structures were identified on pelvic ultrasound. Because of a low T/Δ4 ratio after a human chorionic gonadotropin stimulation test, a tentative diagnosis of 17βHSD-3 deficiency was made which was confirmed after genetic analysis of the HSD17B3 gene of the patient. The molecular analysis identified compound heterozygosity of two previously described mutations and could offer some further validation for the idea of a founder effect for 655-1;G→A mutation in the Greek population.

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“…Her body began to virilize, not feminize. Endocrinological and surgical exploration revealed an intersex condition, namely 17 B-hydroxysteroid dehydrogenase-3 deficiency, and intraabdominal testes (Liakopoulov, Keramydas, Dracopoulov, & Dacou-Voutetakis, 2009). The enzyme defect interferes with production of testosterone from androstenedione.…”

Section: Biological Forcementioning

confidence: 99%

Robert Stoller’s Sex and Gender: 40 Years On

Green

2010

Arch Sex Behav

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By its title, Sex and Gender announced a conceptual breakthrough in distinguishing basic elements of human experience. In Robert Stoller's first book, patients illustrating this divergence were lucidly presented. Transvestites and the newly publicized transsexuals were two examples. Clinical and dynamic distinctions between the two formed a basis for Stoller's criteria for patient selection for "sex change." They remain current. The complex identity of the intersexed was described with sensitivity and insight. It, too, remains timely. An innovative description of the genesis of boyhood transsexualism was presented in considerable detail. This finding is less commonly reported today but is also not looked for. Stoller was sympathetic to the request for sex change. He credited a biological contribution to the development of masculinity and femininity. Both stances were remarkable for a psychoanalyst. Robert Stoller introduced the term "gender identity." It is now our vocabulary when we articulate this bedrock of personhood.

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The Dilemma of Sex Reassignment in an Adolescent with 17β-HSD-3 Deficiency Raised as a Female: Ten-Year Follow-Up

Cited by 6 publications

References 9 publications

Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea

Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea

46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin

Robert Stoller’s Sex and Gender: 40 Years On

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