Precocious Pseudo-puberty in a Two-year-old Girl, Presenting with Bilateral Ovarian Enlargement and Progressing to Unilateral Juvenile Granulosa Cell Tumour
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 o...
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Galenos Yayincilik
2022-03-01
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| Series: | JCRPE |
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| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-25733 |
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| author | Hager barakizou Gannouni Souha Thouraya Kamoun Muhammed Mehdi Fernanda Amary Zilla Huma Anne-laure Todeschini Reiner Veitia Malcolm Donaldson |
| author_facet | Hager barakizou Gannouni Souha Thouraya Kamoun Muhammed Mehdi Fernanda Amary Zilla Huma Anne-laure Todeschini Reiner Veitia Malcolm Donaldson |
| author_sort | Hager barakizou |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T13:54:00Z |
| format | Article |
| id | doaj.art-4316d518cba84646ad07adaa5729732a |
| institution | Directory Open Access Journal |
| issn | 1308-5735 |
| language | English |
| last_indexed | 2024-04-10T13:54:00Z |
| publishDate | 2022-03-01 |
| publisher | Galenos Yayincilik |
| record_format | Article |
| series | JCRPE |
| spelling | doaj.art-4316d518cba84646ad07adaa5729732a2023-02-15T16:10:34ZengGalenos YayincilikJCRPE1308-57352022-03-0114110711310.4274/jcrpe.galenos.2021.2021.0039JCRPE-25733Precocious Pseudo-puberty in a Two-year-old Girl, Presenting with Bilateral Ovarian Enlargement and Progressing to Unilateral Juvenile Granulosa Cell TumourHager barakizou0Gannouni Souha1Thouraya Kamoun2Muhammed Mehdi3Fernanda Amary4Zilla Huma5Anne-laure Todeschini6Reiner Veitia7Malcolm Donaldson8Military Hospital of Tunis, Clinic of Pediatric, Tunis, TunisiaMilitary Hospital of Tunis, Clinic of Pediatric, Tunis, TunisiaCentre Hospitalo-Universitaire, Department of Pediatric, Sfax, TunisiaGlan Clwyd Hospital, Clinic of Pathology, Rhyl, United KingdomRoyal National Orthopaedic Hospital, London, United KingdomRoyal National Orthopaedic Hospital, London, United KingdomUniversité Paris-Saclay, Institut de Biologie François Jacob, Gif-sur-Yvette, FranceUniversité Paris-Saclay, Institut de Biologie François Jacob, Gif-sur-Yvette, FranceGlasgow University School of Medicine, Glasgow, United KingdomOvarian 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.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-25733feminizing precocious pseudo-pubertyovaryjuvenile granulosa cell tumourmccune-albright syndrome |
| spellingShingle | 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 JCRPE feminizing precocious pseudo-puberty ovary juvenile granulosa cell tumour mccune-albright syndrome |
| title | Precocious Pseudo-puberty in a Two-year-old Girl, Presenting with Bilateral Ovarian Enlargement and Progressing to Unilateral Juvenile Granulosa Cell Tumour |
| title_full | Precocious Pseudo-puberty in a Two-year-old Girl, Presenting with Bilateral Ovarian Enlargement and Progressing to Unilateral Juvenile Granulosa Cell Tumour |
| title_fullStr | Precocious Pseudo-puberty in a Two-year-old Girl, Presenting with Bilateral Ovarian Enlargement and Progressing to Unilateral Juvenile Granulosa Cell Tumour |
| title_full_unstemmed | Precocious Pseudo-puberty in a Two-year-old Girl, Presenting with Bilateral Ovarian Enlargement and Progressing to Unilateral Juvenile Granulosa Cell Tumour |
| title_short | Precocious Pseudo-puberty in a Two-year-old Girl, Presenting with Bilateral Ovarian Enlargement and Progressing to Unilateral Juvenile Granulosa Cell Tumour |
| title_sort | precocious pseudo puberty in a two year old girl presenting with bilateral ovarian enlargement and progressing to unilateral juvenile granulosa cell tumour |
| topic | feminizing precocious pseudo-puberty ovary juvenile granulosa cell tumour mccune-albright syndrome |
| url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-25733 |
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