“Ths. Bác sĩ Lê Vũ Tân tốt nghiệp bác sĩ Nội Trú Ngoại Niệu tại ĐH Y Dược TPHCM năm 2013. Ông hiện công tác tại khoa Nam Học bv Bình Dân TPHCM. Năm 2018, ông tu nghiệp Nam Khoa tại Đại học Y Khoa Tulane, Mỹ cùng giáo sư Wayne Hellstrom. Ông là bác sĩ Nam Khoa đầu tiên tại Việt Nam được cấp bằng fellowship tại Mỹ về Vô sinh nam và Rối loạn tình dục.”

1. Le Vu Tan
46,XX MALE DISORDER OF SEXUAL DEVELOPMENT
A CASE REPORT
DEPARTMENT OF ANDROLOGY
18TH CONGRESS OF BINH DAN HOSPITAL

2. CONTENT
CONCLUSION
DISCUSSION
RESULTS
PATIENT AND METHOD
INTRODUCTION

3. INTRODUCTION
 46,XX male, namely testicular disorder of
sexual development (DSD): rare clinical
condition, 1:20.000 in newborn males
 External genitalia appears to be completely
virilized in 90% of 46,XX males
3
Tekgul S. (2014), “Disorder of sex development”, Guidelines on paediatric urology

4. INTRODUCTION
 Diagnosed after puberty: present with
hypogonadism, gynecomastia, and/ or
infertility
 Y chromosome is translocated on X
chromosome: recombination in the distal
parts of short arms of X and Y during
paternal meiosis (SRY - positive).
4
Tekgul S. (2014), “Disorder of sex development”, Guidelines on paediatric urology

5. INTRODUCTION
 Objective: Evaluating the diagnosis and
treatment of a 46,XX male DSD patient.
 This report describes an adolescent who was
diagnosed as a case of SRY-positive 46,XX
male DSD.
5

6. CASE REPORT
 7/2014 at Andrology Department, Binh Dan Hospital.
 Name: Van T. Nguyen, Male, 1994
 Chief complaint: anomaly of the external genital
organ
 History of present illness:
 Congenital anomaly of the genital organ
 Felt so ashamed
 Had only one left testis.
6

7. CASE REPORT
 History: puberal signs since 13, not recorded
any abnormal in his family
 Physical examination:
 Average performance
 Normal vital signs
 Not have any abnormal signs in
cadiovascular, respiratory, neurological
and GI systems 7

8. CASE REPORT
Genital organ:
 Normal axillary hair and pubic hair
 Penile length was 5 cm, curved down 60o
 Penoscrotal hypospadias
 A mass in left scrotum, unlike the testis
 No testis in the right scrotum
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10. CASE REPORT
 Karyotype: 46,XX
 SRY (+)
10

11. CASE REPORT
Hormone:
 Prolactin 7,97 ng/ml (4,1 - 18,5)
 Testosterone 31,75 nmol/l (> 12)
 FSH 24,12 mIU/ml (1,3 - 11,8)
 LH 16,44 mIU/ml (1,8 - 8,4)
Abdominal ultrasound:
Left testis was near the pubis bone, root of the
penis, small size: 18 x 8 x 13mm, the right testis
wasn’t found
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12. CASE REPORT
Abdominal MSCT:
• Normal prostate and penile
• A mass in the left scrotum 17 x 26mm,
suggested hernia
• Not found 2 testes
Diagnosis:
46,XX MALE DISORDER OF SEXUAL
DEVELOPMENT
12

13. CASE REPORT
Protocol:
• 2 structures liked genital organs, about 5cc,
provided blood by the same cord
 suggested 2 testes
• Biopsy
• Divided the spermatic cord in 2, put 2 genital
organs in the scrotum
Anapath: One layer of Sertoli cells,
degenerated seminiferous tubules 13

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15. 15
 The first 46,XX male DSD patient was reported in
1964 by de la Chapelle et al.
 The present case was considered sporadic since
he had no family history.
 Usually diagnosed after puberty with:
hypogonadism, gynecomastia, and/or infertility
 This case presented with: hypospadias and
cryptorchidism
DISCUSSION
Chapelle A., Hortling H (1964), “XX chromosomes in a human male. First case”

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 Guzman: 2011, 46,XX DSD with micropenis
and cryptorchidism
 Anik: 2013, 46XX DSD with 2 small testes and
azoospermia
DISCUSSION
Guzman J. (2011), “46,XX testicular disorder of sex development: case report”
Anik A. (2013), “46,XX male disorder of sexual development: A case report”,

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 2 groups: SRY (+) (90%) and SRY (-) (10%)
 Translocation of Y chromosome including the
SRY locus on X chromosome: recombination
during paternal meiosis
 Easily demonstrated via molecular analyses
(FISH and PCR) in 90% of 46,XX male DSD
cases
DISCUSSION
Romao R. (2012), “Update on the management of disorders of sex development”

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 Appearance of the external genitalia and
masculinization are usually normal in 46,XX SRY -
positive males
 Usually diagnosed in late adolescence or
adulthood through chromosome analyses
performed for infertility and/ or small testis
 This case: the external genitalia was completely
male, pubic hair and penile size were normal.
Chief complaint was cryptorchidism.
DISCUSSION

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 2 structures liked genital organs, about 5cc,
same cord  suggested 2 testes
 Biopsy
 Divided the spermatic cord in 2, put 2 genital organs
in the scrotum
 Have not seen any cases like this
 Anapath: one layer of Sertoli cells
 Li T. made biopsy testis of all 46XX DSD cases:
hyalinization of the seminiferous tubules
DISCUSSION

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 Testosterone levels of 46,XX male DSD cases
is normal, high level of FSH and LH
 Guzman and Anik: the same result
 Normal virilization and testosterone level of
the present case are coherent with previous
reports and suggest that such cases have
adequate gonad function.
DISCUSSION
Guzman J. (2011), “46,XX testicular disorder of sex development: case report”
Anik A. (2013), “46,XX male disorder of sexual development: A case report”,

21.  46,XX male DSD: rare clinical condition
 46,XX male DSD should also be considered in
the differential diagnosis of cases:
 Testicular volumes do not increase in
puberty
 Present with ambiguous genitalia in early
childhood.
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CONCLUSION

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