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      Rapidly Progressive Precocious Puberty With an Elevated Testosterone Level in a 5-Year-Old Boy With a β-Human Chorionic Gonadotropin-Secreting Intracranial Germ Cell Tumor in the Pineal Gland

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          Abstract

          Objective

          Peripheral precocious puberty (PP) is an infrequent etiology for early sexual development. Intracranial germ cell tumors (GCTs) are rare but can present infrequently with PP with the rate of development affected by the degree of tumor hormone production. Our objective was to describe a young boy with a β-human chorionic gonadotropin (hCG)-secreting intracranial GCT with an extremely elevated testosterone level, who presented with rapidly progressive PP.

          Case Report

          A 5-year-old boy presented with penile growth plus pubic hair, deepening voice, and body odor for 3 months. Physical examination revealed a height velocity of 16.25 cm/year, Tanner stage 3 pubic hair, and enlarged penis for age. Laboratory results revealed elevated serum and cerebrospinal fluid β-hCG and 17-hydroxyprogesterone progesterone levels. The testosterone level was above the initial detection range at 2700 ng/dL. Follicle-stimulating hormone and luteinizing hormone were prepubertal with normal serum and cerebrospinal fluid alpha-fetoprotein levels. Imaging showed a pineal mass diagnosed as a β-hCG-secreting GCT. During chemotherapy, the physical signs of PP remitted and laboratory values normalized.

          Discussion

          Intracranial tumors can cause peripheral PP in boys. If the tumor produces high β-hCG levels, this could cause severe hyperandrogenemia resulting in the rapid development of secondary sexual signs. GCTs should be considered in male patients with rapidly progressive PP, even in those lacking other signs of a brain tumor.

          Conclusion

          When presented with a boy with PP, a GCT should be considered if workup shows an elevated testosterone level in conjunction with an elevated β-hCG level, especially if with rapid development.

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          Most cited references18

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          Pediatric central nervous system germ cell tumors: a review.

          Central nervous system (CNS) germ cell tumors (GCTs) represent approximately 3% of primary pediatric brain tumors and encompass a wide pathologic spectrum. CNS GCTs are most commonly located in the pineal and suprasellar regions of the brain and can be divided into major groups including germinomas and nongerminomatous GCTs (NGGCTs), with teratomas often considered a separate category. The clinical presentation varies by location and size, and it frequently includes endocrine abnormalities, visual changes, and signs of increased intracranial pressure. Neuroimaging studies cannot differentiate GCTs from other tumors, and therefore, the diagnosis usually requires histologic confirmation. The rare exceptions are the cases where characteristic elevations of tumor markers, including alpha-fetoprotein and/or beta-human chorionic gonadotropin are documented in the serum and/or cerebrospinal fluid. In these cases, the imaging findings along with the tumor marker elevation may be diagnostic in themselves without the need for tissue confirmation. Treatment and prognosis differ greatly between groups. Germinomas have a superior prognosis than NGGCTs. Five-year overall survival rates >90% were reported initially with the use of craniospinal irradiation. More recently, the use of chemotherapy in addition to radiation therapy has afforded the ability to decrease the dose and volume of radiation therapy without affecting survival rates. NGGCTs are less radiosensitive than germinomas, but the use of adjuvant chemotherapy has improved survival rates in this group as well. The standard management for CNS GCTs remains controversial. Treatment regimens aimed to improve progression-free and overall survival times are ongoing.
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            Outcome of patients with intracranial non-germinomatous germ cell tumors-lessons from the SIOP-CNS-GCT-96 trial.

            Following promising results to increase survival and reduce treatment burden in intracranial non-germinomatous germ cell tumors (NGGCTs), we conducted a European study using dose-intense chemotherapy followed by risk-adapted radiotherapy.
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              Treatment and outcomes of precocious puberty: an update.

              Precocious puberty is a common problem affecting up to 29 per 100,000 girls per year. The earliest identified neuroendocrine change in early puberty thus far is increased kisspeptin secretion from the arcuate nucleus and the anteroventral paraventricular nucleus of the hypothalamus. The regulation of kisspeptin secretion is not well understood, but neurokinin B and dynorphin provide autocrine regulation. The etiologies of precocious puberty may be subdivided into GnRH-dependent and GnRH-independent causes. GnRH-dependent precocious puberty, often called central precocious puberty (CPP), is usually treated with GnRH analogs. Newer developments in the treatment of CPP include expanded data on the safety and efficacy of the subdermal histrelin implant, which is useful for long-term treatment, although removal may be difficult in some cases. Preliminary data suggest that the implant may be left in place for up to 2 years without loss of biochemical suppression. In the last 2 years, more data have been published concerning extended-release leuprolide acetate injections that indicate that the 11.25-mg dose may not provide full biochemical suppression but may clinically suppress signs of puberty, including the accelerated growth velocity and advanced skeletal maturation seen in CPP. Treatment options for familial male-limited precocious puberty and McCune-Albright syndrome are expanding as well, although data are preliminary. Long-term outcome studies of CPP indicate overall good menstrual and reproductive function, but the prevalence of polycystic ovary syndrome may be higher than in the general population. Remarkably few studies have evaluated the behavioral and psychological outcomes of precocious puberty, in contrast to early normal maturation. Additional outcome studies of endocrine, metabolic, and psychological effects of CPP are clearly needed.
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                Author and article information

                Contributors
                Journal
                AACE Clin Case Rep
                AACE Clin Case Rep
                AACE Clinical Case Reports
                American Association of Clinical Endocrinology
                2376-0605
                25 April 2022
                Jul-Aug 2022
                25 April 2022
                : 8
                : 4
                : 174-178
                Affiliations
                [1 ]Stead Family Department of Pediatrics, Division of Endocrinology and Diabetes, University of Iowa, Iowa City, Iowa
                [2 ]Creekside Medical Center, UW Swedish American Hospital, Rockford, Illinois
                [3 ]Stead Family Department of Pediatrics, Division of Hematology Oncology, University of Iowa, Iowa City, Iowa
                Author notes
                []Address correspondence to Dr Lauren A. Kanner, Department of Pediatrics, Division of Endocrinology and Diabetes, 200 Hawkins Drive, BT 2023 Iowa City, IA 52242. Lauren-kanner@ 123456uiowa.edu
                Article
                S2376-0605(22)00027-X
                10.1016/j.aace.2022.04.005
                9363558
                35959087
                7ce8cac7-2e13-468f-968b-28713e3a04c3
                © 2022 AACE. Published by Elsevier Inc.

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                : 30 January 2022
                : 13 April 2022
                : 18 April 2022
                Categories
                Case Report

                precocious puberty,peripheral precocious puberty,germ cell tumor,human chorionic gonadotropin,testosterone,afp, alpha-fetoprotein,csf, cerebrospinal fluid,fsh, follicle-stimulating hormone,gct, germ cell tumor,hcg, human chorionic gonadotropin,lh, luteinizing hormone,nggct, nongerminomatous germ cell tumor,pp, precocious puberty

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