ECEESPE2025 ePoster Presentations Endocrine Related Cancer (100 abstracts)
Toddler-age girl with rapidly progressing peripheral precocious puberty
Eirini Dikaiakou 1 , Ioannis Skondras 2 , Evgenia Magkou 3 , Maria Margarita Rossolatou 1 , Agelina Sfetsiori 3 , Marina Vakaki 4 , Panagiota Giamarelou 5 , Maria Argyropoulou 6 , Anastasia Konidari 6 , Doxis Achilleos 2 , Dimitris Doganis 3 & Elpis-Athina Vlachopapadopoulou 1
1Children’s Hospital “P.& A. Kyriakou”, Dept. of Endocrinology-Growth and Development, Athens, Greece; 2Children’s Hospital “P.& A. Kyriakou”, Department of B’ Pediatric Surgery, Athens, Greece; 3Children’s Hospital “P.& A. Kyriakou”, Oncology Department, Athens, Greece; 4Children’s Hospital “P.& A. Kyriakou”, Radiology Department, Athens, Greece; 5Children’s Hospital “P.& A. Kyriakou”, Histopathology Department, Athens, Greece; 6Children’s Hospital “P.& A. Kyriakou”, Dept. of B Pediatric clinic, Athens, Greece
JOINT2121
Introduction: Precocious рubеrtу is defined as the onset of secondary sexual characteristics before the age of eight years in fеmаles and nine years in males. It is classified as Central precocious pubertу (CPP), as a result of early maturation of the hypothalamic-pituitary-gonadal axis and as peripheral precocious рubеrtу (PPP), secondary to excess secretion of sex hormones from the gonads or аdrеnаl glands, ectopic production of bHCG from a germ-cell tumor or exogenous sources. We aim to present a preschool girl with premature menarche and adrenarche.
Methods: A 4.5-year-old girl was referred for evaluation of precocious puberty. Her mother noticed rapid breast development as well as pubic and axillary hair the previous month. She also reported vaginal bleeding. Physical examination revealed: Tanner II-III breast, axillary and pubic hair, and a palpable mass in the lower abdomen. Laboratory investigation showed elevated estradiol, suppressed gonadotrophins and elevated adrenal androgens, while tumor markers were negative (FSH:<0.3mIU/mL, LH:<0.3mIU/mL, E2:294.70pg/mL, PRL:581μIU/mL, 17- OH-Prog:5.23ng/mL, DHEA-S:0.467μg/ml, aFP:2.6ng/ml, bHCG<0.1UI/lt, TSH:2.13μIU/ml), suggestive of PPP. Bone age was advanced consistent with 5.5 years. Further investigation with abdominal ultrasound and magnetic resonance imaging revealed a large pelvic mass (maximum diameter > 11cm), of mixed consistency possibly originating from the left ovary. Synacthen test was normal. Complete surgical excision of the tumor was performed.
Results: Histopathological examination revealed a Juvenile granulosa cell tumor (JGCT) of the left ovary, TNM/UICC stage: pT1a. Further treatment was not required, as postoperative imaging with MRI and PET-scan had no abnormal findings. Furthermore, she had complete regression of breast tissue and pubic hair while hormonal levels were prepubertal, two months post-surgery.
Conclusions: JGCT is a rare tumor in children and adolescents and most of the cases with ovarian malignancy present in advanced-stage disease. The exact etiology is unknown, while in adults, mutations in FOXL2 have been identified as the key pathogenic factor. It is treated with surgical excision and adjuvant CMT in cases of advanced disease. The prognosis is excellent in lesions confined to the ovary. The differential diagnosis of peripheral precocious puberty includes functional ovarian cysts, granulosa cell tumors, gonadoblastomas, CAH, adrenal tumors, severe hypothyroidism, McCune Albright syndrome, and exposure to estrogens or endocrine disruptors. Early diagnosis is crucial for an optimal outcome.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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