Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic
نویسندگان
چکیده
منابع مشابه
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
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 r...
متن کاملDiagnosis of 5α–reductase 2 deficiency: is measurement of dihydrotestosterone essential?
BACKGROUND 5α-Reductase 2 deficiency (5ARD) is a known cause of 46,XY disorders of sex development (DSD). Traditionally, the diagnosis relies on dihydrotestosterone (DHT) measurement, but the results are often equivocal, potentially leading to misdiagnosis. We reviewed alternative approaches for diagnosis of 5ARD. METHODS We conducted a retrospective review of the results of urinary steroid p...
متن کاملGenetic sequencing of a patient with Kallmann syndrome plus 5α-reductase type 2 deficiency
and 6.78 at baseline, and 4.41 ug l−1, 168.5 ug l−1, and 26.40 after human chorionic gonadotropin (HCG) stimulation, respectively. Other hypothalamic-pituitary-axes' functions were normal. The patient was treated with HCG 2000 U i.m. 3 times every week for 9 months, and then human menopausal gonadotropin (HMG) 75 U i.m. was added 3 times a week for another 3 months. Mild Dear Editor, Kallmann s...
متن کاملClinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency
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...
متن کاملMolecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism.
CONTEXT Although a rare occurrence, previously undiagnosed disorders of sex development (DSD) with hyperandrogenism are sometimes detected by hormonal screening during the international sports competitions. Identifying the cause of XY,DSD raises medical and ethical concerns, especially with regard to issues of the eligibility to compete. OBJECTIVE The aim of this study was to determine whethe...
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ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2011
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje-10-0930