Table 2 Clinical phenotype, karyotype, prior genetic tests and findings in the current study.

From: Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development

ID

EG#

Kar%

Age

Phenotype

Anosmia

Prior tests$

Current study$$

P01

M

46,XY

9y2m

Micropenis, small testes,adrenal insufficiency

 

NR0B1(+)

NR0B1

P02

F

46,XX

18y

No breast growth/menstrual cycle, vague left ovary(ultrasound)

−

NR0B1(−)

−

P03

M

46,XY

9y1m

Micropenis, small testes

−

KAL1(−)

PROKR2

P04

M

46,XY

9y3m

Cryptorchidism

 

NR0B1(−)

−

P05

M

46,XY

13y

Micropenis

+

NR0B1(−)

−

P06

M

46,XY

11y6m

Small testes

−

KAL1(−)

WDR11

P07

M

46,XX

4y3m

Hypospadias, inguinal testes

 

NR0B1(−)

BMP4

P08

M

46,XX

1y7m

Ambiguous genitalia, inguinal testes

 

NR0B1(−)

−

P09

M

46,XY

1y2m

Micropenis, small testes

 

KAL1(−), CYP21A(−), FGFR1(−)

SRD5A2

P10

M

46,XY

12y4m

Micropenis, normal testes

−

KAL1(−)

−

P11

M

46,XY

4y2m

Micropenis, ID, ADHD

+

KAL1(−), FGFR1(−)

−

P12

M

46,XY

2y9m

Micropenis

 

HESX(−), KAL1(−)

−

P13

M

46,XY

3m

Micropenis, cryptorchidism

 

NR0B1(−)

GNRHR

P14

M

46,XY

14y6m

Micropenis

−

KAL1(−)

−

P15

M

46,XY

9y11m

No palpable testes

 

KAL1(−)

−

P16

M

46,XY

8y5m

Micropenis

 

NR0B1(−), KAL1(−), FGFR1(−)

−

P17

M

46,XY

1y9m

Cryptorchidism, micropenis, bilateral inguinal testes

  

−

P18

M

46,XY

8y1m

Micropenis, small testes

−

KAL1(−), FGFR1(−), FGFR3(−)

−

P19

F

46,XY

15y4m

Hypoplastic labia, uterus present

 

SRY detected*, FGFR3(−)

DMRT1

P20

M

46,XY

3y11m

Small testes, short stature

 

NR0B1(−)

−

P21

M

46,XY

18y5m

Hypospadias, gynecomastia, testes with calcification

 

FGFR3(−)

AR

P22

F

46,XY

1y4m

Ambiguous genitalia, vagina present, testis on right

 

SRY detected*

SRD5A2

P23

M

46,XX

2 m

Ambiguous genitalia, labioscrotal hypertrophy, micropenis, inguinal testes

 

SRY not detected*

SEMA3A,AKR1C4

P24

M

46,XY

8 m

Hypospadias

 

SRY detected*

−

P25

M

46,XY

15y

Small testes, bifid scrotum, obesity

 

KAL1(−)

−

P26

M

46,XX

6 m

Ambiguous genitalia, labioscrotal hypertrophy, palpable testes

  

−

P27

M

46,XY

15y7m

Small testes

+

KAL1(+)

KAL1

P28

M

46,XY

3y

Hypospadias, palpable testes, micropenis

 

NR0B1(−), CYP21A(−)

SRD5A2

P29

M

46,XY

7 m

Hypospadias, palpable testes, micropenis, congenital heart defects

 

NR0B1(−)

−

P30

M

46,XY

NA

Micropenis, adrenal insufficiency

 

CYP11B1(−)

−

P31

M

46,XY

9y8m

Small testes (bilateral inequality with calcification)

 

NR0B1(−)

NR5A1

P32

M

46,XY

2 m

Micropenis, inguinal testes

 

NR0B1(−), KAL1(+)

KAL1

  1. #EG-external genitalia. %Kar-karyotype. Anos- anosmia. *Detection of SRY fragments based on PCR amplification and electrophoresis. $The results of prior single gene tests: (+) means pathogenic/likely pathogenic variants identified in the gene; (−) negative finding. $$Possible causal variants identified in the current next-generation sequencing. Gene names in bold mean a diagnosis was made based on variants identified in the gene.
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