ESPE2024 Poster Category 2 Pituitary, Neuroendocrinology and Puberty (36 abstracts)
Rapidly progressing peripheral precocious puberty due to pineal germ cell tumor in a preschool age boy
Eirini Dikaiakou 1 , Dimitrios Doganis 2 , Evgenia Magkou 2 , Sofia Lekka-Emiri 1 , Aggelina Sfetsiori 2 , Dionysios Chrysis 3 , George Markogiannakis 4 , Maria Gavra 5 , Aikaterini Alexopoulou 6 , Margarita Baka 2 , Amalia Sertedaki 7 , Christina Kanaka-Gantenbein 7 & Elpis Vlachopapadopoulou 1
1Dept. of Endocrinology-Growth and Development Children's Hospital P. & A. Kyriakou", Athens, Greece. 2Dept of Oncology Children's Hospita; P. & A. Kyriakou, Athens, Greece. 3Pediatric Endocrine Unit Department of Pediatrics Medical School University of Patras, Patra, Greece. 4Dept of Neurosurgery Children's Hospita; P. & A. Kyriakou, Athens, Greece. 5Department of Paediatric Radiology (CT, MRI) & Nuclear Medicine, Aghia Sophia Children’s Hospital, Athens, Greece. 6Children's & Adolescents Radiotherapy Department Athens General Children's Hospital "P. & A. Kyriakou", Athens, Greece. 7Division of Endocrinology Metabolism and Diabetes–ENDO-ERN Center of Excellence A’ Department on Pediatrics, Medical School, National and Kapodistrian University of Athens, “Aghia Sofia” Children’s Hospital., Athens, Greece
Introduction: Intracranial germ cell tumors (GCTs) are rare and likely to present with peripheral precocious puberty (PPP). We report the case of a 5-year-old boy with pineal GCT, in whom, although he presented with advanced peripheral precocious puberty, levels of β-chorionic gonadotropin (β-HCG) were mildly elevated, not diagnostic of GCT, posing a diagnostic dilemma.
Methods: A 53/12 year- old boy was referred for evaluation of PPP. Parents have noticed pubic hair development from the age of 4 years and voice change for at least 6 months before referral. They denied any polydipsia, polyuria, dizziness, nausea or vomiting. The review of his growth chart revealed growth acceleration from 3 years of age. On initial examination height was 126.5 cm (>97Th %ile), weight: 24 kg, Pubic hair Tanner III—IV, testicular volume 6-8 ml, penile length 8.5 cm. Bone age was significantly advanced consistent with 13 years of age. Diagnostic work-up revealed undetectable gonadotropins, very high levels of testosterone (5.1 nmol/L), detectable levels of β-HCG 8.7 mU/ml, normal pituitary function and normal sonogram of the abdomen and chest. Abdominal CT was also normal.
Results: To further investigate the possible diagnosis of GCT, lumbar puncture was performed twice, with cerebrospinal fluid (CSF) β-HCG levels two and three times higher than the serum levels (22.8 mU/ml and 38.99 mU/ml, as compared to 10.38 mU/ml), while diagnostic level of CSF β-HCG for GCT is considered that of 50 mU/ml). As testotoxicosis was also contemplated in the differential diagnosis, WES was performed with no significant findings. The boy was treated with bicalutamide and anastraszole to prevent further pubertal progression and bone age advancement. As stereotactic biopsy was considered not feasible because of the small size of the cyst, the patient was closely observed with LP and MRI every 2 months. CNS β-HCG remained not diagnostic while the size of the cyst increased, thus a biopsy was undertaken and the diagnosis of pineal choriocarcinoma was established. He was treated with chemotherapy and radiotherapy and bicalutamide was discontinued. Subsequently, he developed central precocious puberty, and was treated with LHRH analog. Currently, gonadotropins and testosterone are low, serum β-HCG non-detectable and bone age 136/12 years.
Conclusion: Peripheral precocious puberty can be the initial clinical finding of rare intracranial germ cell tumors. Increased clinical suspicion and close observation with repetitive clinical and laboratory assessments can lead to the diagnosis. Modern endoscopic and microsurgical approaches permit achieving precise histopathological diagnosis.
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