Luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is essential for normal male sex differentiation. Inactivating mutations of LHCGR gene result in varying degree of Leydig cell hypoplasia (LCH) that causes 46,XY DSD.
A 2-year and 1-month-old female infant was referred to us for further evaluation of DSD. She was the fourth child of healthy consanguineous Turkish parents and was born at 38 weeks. The patient was raised as female. Her mother noticed bilateral masses on her inguinal areas and brought her to the local hospital. The abdomen USG revealed bilateral masses (possibly testicular structures) on both inguinal region. On admission, her weight was 0.95 SDS, height was 3.4 SDS, and physical examination was normal except for the palpable gonads in both inguinal regions. Her external genitalia was completely female in appearance.
Hormonal investigations showed low testosterone (13.6 ng/mL) with high gonadotropin (follicle-stimulating hormone=6.1 IU/L and LH=12.53 IU/L) and AMH (>23 ng/mL) levels. Serum levels of 17-OHP, DHEAS, and AS were within normal ranges. Testosterone response to 3-day HCG stimulation test was absent (sT=14.47 ng/dL). The karyotype was 46,XY. Pelvic ultrasound revealed absent uterus and ovaries but presence of testicular structures in the superior inguinal canal bilaterally. Bone age was 2 years. The diagnosis of LCH was considered in the patient. LHCGR gene sequencing demonstrated a homozygous c.1435C>T (p.R479*) mutation that confirmed the diagnosis. In the parents genetic analysis is being done.
Although LHC is usually diagnosed at pubertal or postpubertal period, this case demonstrates that LCH can be seen in infancy period presenting with inguinal masses.