Background: 45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes, ranging from ambiguous genitalia at birth to patients with a completely male or female phenotype. Turner syndrome stigmata and associated anomalies could be found in these patients.
Objective and hypotheses: To evaluate clinical presenting symptom and follow-up data of 30 patients with 45,X/46,XY karyotype.
Method: Thirty patients with 45,X/46,XY mosaicism diagnosed between 1989 and 2014 in Pediatric Endocrinology Unit were reviewed retrospectively.
Results: The mean age at diagnosis was 5.7±6.3 years (range: 0.0316.7). Their presenting symptoms were ambiguous genitalia (n=16), bilateral undescended testis (n=3), hirsutism and amenorrhea (n=1), amenorrhea (n=2), and short stature (n=7). One patient was diagnosed by prenatal amniocentesis; karyotype was confirmed after birth. Turner stigmata were found in eight patients. Müllerian structures were identified in 28 patients on ultrasound. Sixteen children were reared as female, 13 as male and 1-year-old patient was undefined. Four patients (10%) had cardiac anomalies, two (5%) renal anomalies, two celiac disease (5%), two Hashimoto thyroiditis (5%) and one patient bilateral conductive hearing loss. Three patients had gonadoblastoma. GH treatment was initiated six patients (five female, one male) at a mean age of 12.9±0.8 years (range: 12.014.1). Mean height SDS at the initiation of GH treatment of six patients was −4.3±1.7. Four patients reached a mean adult height of −3.4±2.6 on GH treatment.
Conclusion: Although main presenting symptom of 45,X/46,XY mosaicism is ambiguous genitalia in early ages, a significant number of patients could be diagnosed with different symptoms in older ages. Besides follow-up for gonadal tumors, patients with 45,X/46,XY mosaicism require a clinical evaluation similar to that performed in Turner syndrome and growth velocity must be routinely followed up.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology