E-ISSN: 2791-8823
Volume : 14 Issue : 1 Year : 2022
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Turkish Society for Pediatric Endocrinology and Diabetes
Precocious Pseudo-puberty in a Two-year-old Girl, Presenting with Bilateral Ovarian Enlargement and Progressing to Unilateral Juvenile Granulosa Cell Tumour [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2022; 14(1): 107-113 | DOI: 10.4274/jcrpe.galenos.2021.2021.0039

Precocious Pseudo-puberty in a Two-year-old Girl, Presenting with Bilateral Ovarian Enlargement and Progressing to Unilateral Juvenile Granulosa Cell Tumour

Hager barakizou1, Gannouni Souha1, Thouraya Kamoun2, Muhammed Mehdi3, Fernanda Amary4, Zilla Huma4, Anne-laure Todeschini5, Reiner Veitia5, Malcolm Donaldson6
1Military Hospital of Tunis, Clinic of Pediatric, Tunis, Tunisia
2Centre Hospitalo-Universitaire, Department of Pediatric, Sfax, Tunisia
3Glan Clwyd Hospital, Clinic of Pathology, Rhyl, United Kingdom
4Royal National Orthopaedic Hospital, London, United Kingdom
5Université Paris-Saclay, Institut de Biologie François Jacob, Gif-sur-Yvette, France
6Glasgow University School of Medicine, Glasgow, United Kingdom

Ovarian causes of precocious pseudo-puberty (PPP) include McCune-Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT). We describe a case of PPP in which bilateral ovarian enlargement with multiple cysts progressed to unilateral JGCT. A girl aged 2.17 years presented with three months of breast development, and rapid growth. Examination showed tall stature, height +2.6 standard deviations, Tanner stage B3P2A1. A single café au lait patch was noted. Bone age was advanced at 5 years. Pelvic ultrasound showed bilaterally enlarged ovaries (estimated volumes 76 mL on the left, 139 mL on the right), each containing multiple cysts. Luteinizing hormone (LH) and follicle stimulating hormone (FSH) values before/after gonadotrophin administration were 0.43/0.18 and <0.1/<0.1 mUI/mL, serum estradiol 130 pg/mL, (prepubertal range <20 pg/mL). PPP of ovarian origin was diagnosed, and tamoxifen 20 mg daily started. However, after only seven weeks height velocity escalated and breast development increased to B3-4 with menorrhagia. Basal/stimulated LH and FSH were still suppressed at 0.13/0.25 and <0.1/<0.1 mUI/mL and, serum estradiol 184 pg/mL. Repeat imaging now showed normal right ovary (volume 1.8 mL) and a large left-sided vascular solid/cystic ovarian tumour which was excised (weight 850 g). Histology showed JGCT, International Federation of Gynecology and Obstetrics stage IA. DNA from tumour tissue showed no mutation in GNAS, exon 3 of AKT1 (which contains a mutational hotspot) or FOXL2. The observation that bilateral ovarian activity progressed to unilateral development of JGCT in this patient is novel. This case highlights current uncertainties in the ontology of JGCT, and its possible relationship with MAS.

Keywords: Feminizing precocious pseudo-puberty, ovary, juvenile granulosa cell tumour, McCune-Albright syndrome

Hager barakizou, Gannouni Souha, Thouraya Kamoun, Muhammed Mehdi, Fernanda Amary, Zilla Huma, Anne-laure Todeschini, Reiner Veitia, Malcolm Donaldson. Precocious Pseudo-puberty in a Two-year-old Girl, Presenting with Bilateral Ovarian Enlargement and Progressing to Unilateral Juvenile Granulosa Cell Tumour. J Clin Res Pediatr Endocrinol. 2022; 14(1): 107-113

Corresponding Author: Malcolm Donaldson, United Kingdom
Manuscript Language: English
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