Objective: We report a case of a 5y3m patient who complained of breast development with "45, X Turner syndrome (TS) and HCG-secreting gonadoblastoma (Gb)" with Y chromosome mosaicism. Aim to understand the diagnosis of TS and improve the diagnosis and treatment of HCG-secreting tumors.
Methods: The data of clinical diagnosis and treatment of this patient were summarized, and the literatures were reviewed.
Results: The 3y2m patient was diagnosed with "pulmonary venous malformation + atrial septal defect" when she attended a local hospital due to breast development for 2 months. She underwent cardiac surgery. Her breast development was progressive, with accelerated growth and marked progression in bone age. At the age of 3y7m, the local whole-exome sequencing results were suspected to be 45, X karyotype, which was confirmed by the latter two hospitals. At the age of 4y6m, serum β-HCG was found to be elevated (24.94mIU/mL), and the lesion was unknown. Physical examination: slightly wide eye distance, high palatal arch, mild cubitus valgus. The height was 113.7 cm (+0.1SD), the muscles were strong. Tanner stages: B4, PH3, female vulva and the clitoris was hypertrophic. Blood test: FSH 0.12 IU/l, LH 0.02 IU/l, E2 28 pg/ml, T 1.96 ng/ml, β-HCG 32.33 mIU/ml, AFP 0.94 μg/L. Bone age was 10.5 years. Blood SRY gene (PCR) (-), FISH (CEPY/CEPX probe) found only one X centromere. Thoracic and abdominal CT, head and pelvic MRI were normal. Laparoscopic gonad exploration (tumor appearance on the left, cord on the right), bilateral gonadal venous blood collection (β-HCG, E2 and T higher than left > right > peripheral venous blood), gonadal resection (bilateral gonads blastoma), bilateral gonadal SRY gene was positive. After surgery, E2, T, β-HCG decreased to normal. The patient received chemotherapy. After 9 months of follow-up, her growth slowed down, breasts became softer and smaller, clitoris was reduced and pubic hair was reduced. The level of E2, T, β-HCG were normal.
Conclusion: The risk of Gb in TS containing Y component is high. Gb with breast development as the main clinical manifestation is rare, Gb secreting HCG is even rarer. Therefore, TS with atypical clinical manifestations should pay attention to mosaicism. For TS with virilizing characteristics, the presence or absence of Y chromosome (component) should be identified, including tissue mosaicism. This case is the fifth report of Gb secreting HCG in the world. Precocious puberty regardless of gender, the testing of HCG, AFP are required.
15 Sep 2022 - 17 Sep 2022