46,XX Testicular DSD with a Negative SRY: What You See Is Not Always the Truth
https://doi.org/10.15605/jafes.041.S1
- Author:
Chia Ying Kang
1
;
Sze Teik Teoh
1
Author Information
1. Paediatric Department Hospital Sultanah Bahiyah
- Publication Type:Journal Article
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):144-
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:46,XX testicular DSD is rare with incidence ~1 in 20,000 live
births. Over 80–90% of cases are caused by translocation of
SRY gene to X-chromosome or an autosome. Most present
later in life with small testes, infertility and azoospermia.
In SRY-negative cases, mutations in other genes (SOX9,
NR5A1, etc) or duplications of SOX9 are implicated. Our
reported case is SRY negative, presenting at birth.
Case:We report a case of 1-year 4-month-old term baby with
atypical genitalia at birth. External genitalia examination
showed penoscrotal malformation, genital tubercle (2.5
× 1.5 cm) with chordae, single opening at perineum, and
two palpable gonads within both upper labio-scrotal folds.
External genital score is 8.5. Ultrasound of inguinal region
and pelvis showed bilateral hypoechoic ovoid structure at
bilateral inguinal region suggestive of testes, with the right
testis measuring 0.4 × 0.8 cm and left testis measuring 0.4 ×
0.7 cm. No mullerian structures or ovaries were visualized. Initial chromosome results (10 cells analyzed, 30 counted)
reported 46, XX. Consultation with genetic pathologist and
2nd karyotype result still revealed 46, XX with FISH analysis
confirming the absence of SRY. Mini-puberty screen (at
72 hours of life) showed follicle-stimulating hormone 3.5
IU/L, LH 1.72 IU/L, and testosterone 2.29 nmol/L. HCG
stimulation test indicated adequate testosterone rise from
13 nmol/L (Day 1) to 29.38 nmol/L (Day 3), confirming the
presence of functional Leydig cells. Serum AMH was within
normal male range for age (421.3 pmol/L, 29–364 days:
235.5–1125.9). Gender is assigned as male and he recently
underwent 1st stage hypospadias repair. Whole exome
sequencing result is pending.
Conclusion:46,XX testicular DSD, with a negative SRY, is rare, and early
diagnosis at birth enables counseling for future concerns
such as male infertility and hypergonadotropic hypogonadism. A multidisciplinary management (involving
endocrinology, surgery/urology, and genetics) is needed
to ensure understanding and emotional support.
- Full text:2026081017124850258EP_P019.pdf
