Meacham syndrome in a patient with gonadal dysgenesis, congenital cardiac malformations, and short stature

CLINICAL VIGNETTEstructures were visible (on the right, 8 4 mm; on the left, 7 3 mm).The MRI appearance was inconclusive -small, solitary lymph nodes or residual gonadal tissue.Typical gonads were not visualized.At 14.5 years, laparoscopic bilateral gonadectomy was performed.Histopathological examination revealed fragments of fallopian tube tissue, We present a 15-year-old girl who is under endocrinological care due to disorders of sex development (DSD) and short stature associated with Meacham syndrome (MS).The child was born at 36 weeks of gestation, delivered by cesarean section due to premature rupture of membranes.Her birth weight was 2200 g (-1.64 standard deviation [SD]), length 45 cm (-2.0 SD), and Apgar score 1.At birth, a complex congenital heart defect was diagnosed, including pulmonary valve atresia, ventricular septal defect, and aberrant right subclavian artery.The patient underwent multiple cardiac surgical corrections.Due to concomitant growth failure, cytogenetic testing was performed at the age of 5 years, revealing a 46, XY karyotype.Endocrinological evaluation showed the following: follicle-stimulating hormone (FSH) 1.72 U/L, luteinizing hormone (LH) 1.71 U/L, testosterone < 29.0 ng/dL, anti-Mllerian hormone (AMH) < 0.57 pmol/L, and estradiol 26.2 pg/mL.Pelvic ultrasound demonstrated a prepubertal uterus, and gonads were not visualized.Based on the test results, gonadal dysgenesis was suspected, and gonadectomy was recommended.At the age of 9 years, array comparative genomic hybridization (CGH) analysis revealed a microduplication of chromosome 11p13, encompassing the WT1 gene region, consistent with Meacham syndrome.Endocrinological follow-up was interrupted between the ages of 9 and 13 years due to parental non-attendance at scheduled appointments.At 14 years old, magnetic resonance imaging (MRI) of the pelvis showed a small, anteverted uterus (28 mm in length and 7.5 mm anteroposteriorly), with a narrow endometrial cavity.At the level of the hip joints, posterior to the iliac vessels, symmetrical, homogeneous