Abstract | OBJECTIVE:
Disorders of sex development are due to congenital defects in chromosomal, gonadal, or anatomical sex development. The objective of this study was to determine the aetiology of this group of disorders in the Hong Kong Chinese population. SETTING: Five public hospitals in Hong Kong. PATIENTS: MAIN OUTCOME MEASURES: RESULTS: CONCLUSIONS: Our findings suggest that 5α-reductase 2 deficiency and androgen insensitivity syndrome are possibly the two most common causes of 46,XY disorders of sex development in the Hong Kong Chinese population. Since hormonal findings can be unreliable, mutational analysis of the SRD5A2 and AR genes should be considered the first-line tests for these patients.
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Authors | Angel O K Chan, W M But, C Y Lee, Y Y Lam, K L Ng, P Y Loung, Aimen Lam, C W Cheng, C C Shek, W S Wong, K F Wong, M Y Wong, W Y Tse |
Journal | Hong Kong medical journal = Xianggang yi xue za zhi
(Hong Kong Med J)
Vol. 21
Issue 6
Pg. 499-510
(Dec 2015)
ISSN: 1024-2708 [Print] China |
PMID | 26492835
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Gonadotropins
- NR5A1 protein, human
- Steroidogenic Factor 1
- Dihydrotestosterone
- Testosterone
- Cholesterol Side-Chain Cleavage Enzyme
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
- steroid-5alpha-reductase type 2
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Topics |
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
(deficiency)
- 46, XX Disorders of Sex Development
(etiology)
- Adolescent
- Amenorrhea
(etiology)
- Androgen-Insensitivity Syndrome
(etiology)
- Asian People
- Child
- Child, Preschool
- Cholesterol Side-Chain Cleavage Enzyme
(deficiency)
- Congenital Abnormalities
(etiology)
- DNA Mutational Analysis
- Dihydrotestosterone
(blood)
- Disorder of Sex Development, 46,XY
(blood, etiology, urine)
- Female
- Frasier Syndrome
(etiology)
- Genital Diseases, Male
(etiology)
- Gonadotropins
(blood)
- Hong Kong
- Humans
- Hypospadias
(etiology)
- Infant
- Infant, Newborn
- Male
- Mullerian Ducts
(abnormalities)
- Mutation
- Penis
(abnormalities)
- Puberty, Delayed
(etiology)
- Steroidogenic Factor 1
(genetics)
- Testosterone
(blood)
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