ESPE Abstracts (2023) 97 P2-290

Hospital Israelita Albert Einstein, São Paulo, Brazil

Introduction: Precocious pubarche (PP) is characterized by the early development of pubic hair and clitoral enlargement in girls. While commonly attributed to adrenal-related causes, such as congenital adrenal hyperplasia or adrenal tumors, ovarian sources are infrequent etiologies. In this report, we present a clinical case of a young girl with PP due to a rare source.

Case Report: A 1.7-year-old girl presented with the rapid onset of pubic hair and clitoral enlargement, accompanied by acne, increased stature (3 cm), and weight gain (1.5 kg) during one month. Medical history, including gestational and birth records, was unremarkable. Physical examination revealed mild clitoral enlargement (B1P2), and laboratory investigations showed elevated levels of 17 OH Progesterone: 421 ng/dL, (< 100), Androstenedione: 75 ng/dL, (< 50), DHEA-S: 25 µg/dL, (< 19), and Testosterone:7 43 ng/dL, (< 40). Additionally, elevated levels of IGF-1: 415 ng/mL, (44-356) and IGFBP-3: 5330 ng/mL, (700-3500) were observed. Abdominal and pelvic ultrasonography yielded normal results, while other hormonal exams, including LH, FSH, Estradiol, ACTH, and Cortisol, were within normal ranges. An ACTH test at 1.9 years old did not reveal adrenal hormone elevation but confirmed persistently elevated testosterone levels (781 ng/dL). At 2 years old, the patient exhibited further physical changes, including hoarse voice, increased acne, and muscle hypertrophy in the upper and lower limbs, reflecting the clinical progression of hyperandrogenism. Despite normal DHEA-S levels, abdominal and pelvic MRI identified a 2.8 cm mass in the left ovarian region. The patient underwent a laparoscopic procedure, during which the tumor was successfully removed. Histopathologic evaluation confirmed the diagnosis of ovarian steroid cell tumor, not otherwise specified (OSCT-NOS). One-month post-surgery revealed a significant decline in testosterone levels (9 ng/dL) and resolution of hyperandrogenic features. Genetic testing revealed two heterozygous variants: TP53 (pathogenic, associated with Li-Fraumeni Syndrome) and BRCA-1 (probably pathogenic, associated with breast and ovarian cancer). The TP53 variant likely contributes to the clinical presentation, while the likely pathogenic BRCA1 variant may have influenced the early onset of this specific tumor type. Notably, the patient's father carries the heterozygous BRCA-1 variant, while the mother does not.

Conclusion: This case report highlights an exceptionally early presentation of a rare ovarian steroid cell tumor in a very young girl with precocious pubarche. The report emphasizes the diagnostic challenges encountered and elucidates the association

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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