Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature review.

BACKGROUND: Y chromosome material stands as an independent risk determinant for the onset of gonadoblastoma (GB) and subsequent gonadal germ cell tumours in individuals with Turner syndrome (TS). However, the delayed and underestimated identification of Y chromosome material through karyotyping within primary care settings exacerbates the intricacies of managing these patients over the long term. METHODS: We present a case involving TS accompanied by Y chromosome material, wherein puberty delay and GB were identified during prophylactic gonadectomy. Subsequently, we delve into the literature to explore the GB-related malignancy risk in TS patients with Y chromosome material, the incidence of Y chromosome presence in TS patients using methodologies beyond routine chromosomal testing, and the diagnosis and treatment of puberty delay in TS patients, all based on our case. RESULTS: A spectrum of more sensitive molecular techniques, including polymerase chain reaction (PCR) and fluorescence in situ hybridisation, effectively augments the detection of Y chromosome material alongside karyotyping. In addition to gonadectomy, the implementation of appropriate oestrogen therapy and a holistic, multidisciplinary approach to care can enhance the quality of life, while mitigating the long-term morbidity and mortality risks for TS patients harbouring Y chromosome material. CONCLUSIONS: Beyond gonadectomy, adopting a multifaceted approach the Y chromosome material detection, prompt initiation of puberty, tailored oestrogen therapy, and coordinated multidisciplinary management significantly contributes to the comprehensive health oversight of TS patients with Y chromosome material.

Unexpected outcome in a treated XY reversal syndrome patient.

Hormone replacement therapy is mandatory to maintain quality of life and bone mineralization status in patients with gonadal dysgenesis. Occasionally, these patients need higher than recommended estrogen dosage to prevent signs and symptoms of hypoestrogenic state. Our 18-year-old female patient with XY sex reversal syndrome was gonadectomized and administered conventional hormone replacement therapy. Gonadoblastoma was found in the excised streak gonad. Five years after continuous replacement therapy, the patient reported unexpectedly hot flushes and amenorrhea in spite of regular hormone intake. Severe osteopenia was also detected. Unconventionally high estrogen dose was given with additional daily vitamin D and calcium supplement. Dual energy x-ray absorptiometry revealed lesser but evident osteopenia and the patient reported repeated bleeding without hot flushes on the new hormone regimen. Individualized dosage of estrogen is essential for these patients according to their bone status and subjective symptoms. Early therapy initiation along with continuous and frequent evaluation of bone status and quality of life is advised.