Paternity by Intrauterine Insemination with Sperm from a Man with 5α-Reductase-2 Deficiency

Katz, M; Kligman, Isaac; Cai, Li-Qun; Zhu, Yuan‐Shan; Fratianni, Carmel; Zervoudakis, Ioannis A.; Rosenwaks, Zev; Imperato‐McGinley, Julianne

doi:10.1056/nejm199704033361404

Cited by 117 publications

(52 citation statements)

References 27 publications

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“…Currently, in vitro fertilization techniques has enabled some 46,XY DSD patients caused by 5-reductase-2 deficiency to produce offspring. 62,93 The first reported case, a 46,XY DSD patient with 5-reductase-2 deficiency achieved biological fatherhood twice by intrauterine insemination with his sperm. 93 The use of intrauterine insemination circumvented the difficulties with insemination consequent to the urethroscrotal fistulas and abnormal semen quality and resulted in two successful pregnancies.…”

Section: Fertility In Patients With 46xy Dsdmentioning

confidence: 99%

46,XY disorders of sex development (DSD)

Mendonca

Domenice

Arnhold

et al. 2009

Clinical Endocrinology

137

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SummaryThe term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical.Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or disorders of sex differentiation leading to 46,XY DSD. Detailed clinical phenotypes allow the identification of new factors that can alter the expression or function of mutated proteins helping to understand new undisclosed biochemical pathways. In this review we present an update on 46,XY DSD aetiology, diagnosis and treatment based on extensive review of the literature and our three decades of experience with these patients.

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Section: Fertility In Patients With 46xy Dsdmentioning

confidence: 99%

46,XY disorders of sex development (DSD)

Mendonca

Domenice

Arnhold

et al. 2009

Clinical Endocrinology

137

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“…DHT has a greater affinity for the androgen receptor than testosterone and is required to masculinize the external genitalia, but not the internal male sex ducts, during fetal development. Testosterone alone is sufficient to support somatic virilization postnatally [42, 43]. …”

Section: 5α-reductase-2 Deficiencymentioning

confidence: 99%

“…Both sperm production and paternity have been documented in men affected by 5 α -RD-2 deficiency [43, 45–48]. High-dose androgen therapy improves virilization, erectile response and ejaculatory volume in individuals reared male [45].…”

Section: 5α-reductase-2 Deficiencymentioning

confidence: 99%

46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5α-Reductase-2 Deficiency, or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

Wisniewski

Mazur

2009

International Journal of Pediatric Endocrinology

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Disorders of sex development refer to a collection of congenital conditions in which atypical development of chromosomal, gonadal, or anatomic sex occurs. Studies of 46,XY DSD have focused largely on gender identity, gender role, and sexual orientation. Few studies have focused on other domains, such as physical and mental health, that may contribute to a person's quality of life. The current review focuses on information published since 1955 pertaining to psychological well-being, cognition, general health, fertility, and sexual function in people affected by androgen insensitivity syndromes, 5-α reductase-2 deficiency, or 17β-hydroxysteroid dehydrogenase-3 deficiency—reared male or female. The complete form of androgen insensitivity syndrome has been the focus of the largest number of investigations in domains other than gender. Despite this, all of the conditions included in the current review are under-studied. Realms identified for further study include psychological well-being, cognitive abilities, general health, fertility, and sexual function. Such investigations would not only improve the quality of life for those affected by DSD but may also provide information for improving physical and mental health in the general population.

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“…Adult subjects may present with azoospermia or severe oligozoospermia sometimes associated with undescended testes and hypospadia. 57,58 Pregnancy by IUI has been reported in patients with 5 a-reductase deficiency. 58 Aneuploidy analysis in spermatozoa Normal males produce a variable proportion of spermatozoa (ranging between 1 and 15%) with visible chromosome aberrations, most of them being of the structural type (about 90%).…”

mentioning

confidence: 99%

“…57,58 Pregnancy by IUI has been reported in patients with 5 a-reductase deficiency. 58 Aneuploidy analysis in spermatozoa Normal males produce a variable proportion of spermatozoa (ranging between 1 and 15%) with visible chromosome aberrations, most of them being of the structural type (about 90%). 59 Some evidence suggests that a number of clinical conditions related to male infertility are associated with increased numbers of hypo-or hyperaploid spermatozoa.…”

mentioning

confidence: 99%

Guidelines for the appropriate use of genetic tests in infertile couples

Foresta

Ferlin

Gianaroli³

et al. 2002

Eur J Hum Genet

132

110

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Research on genetic causes of male and female infertility rapidly expanded in the last years, following the development of in vitro fertilising techniques. Genetic tests are now available to explore the cause of the infertility and assess the risk of a given couple to transmit its genetic characteristics. This allows at-risk couples to take an informed decision when electing for a medically assisted reproduction. It also allows the professionals to offer a prenatal diagnosis when appropriate. Thus, the genetic work-up of the infertile couple has become good practice for an appropriate diagnosis, treatment and prognostic assessment. The lack of national or international rules for the genetic approach to the infertile couple, prompted the Italian community of professionals in the field of reproductive medicine to join and set up guidelines for the genetic diagnosis of male and female infertility. The group of clinical and research experts is representative of 12 national scientific societies and was supported by external experts from four international societies. We examine the clinically relevant genetic causes of male and female infertility and suggest the category of patients for which each genetic test is recommended or optional, both for an accurate diagnosis and prior to ART.

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Paternity by Intrauterine Insemination with Sperm from a Man with 5α-Reductase-2 Deficiency

Cited by 117 publications

References 27 publications

46,XY disorders of sex development (DSD)

46,XY disorders of sex development (DSD)

46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5α-Reductase-2 Deficiency, or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

Guidelines for the appropriate use of genetic tests in infertile couples

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