Pediatric Germ Cell and Human Chorionic Gonadotropin—Producing Tumors

Balanced Translocation of 10q and 13q, Including the PTENGene, in a Boy with a Human Chorionic Gonadotropin-Secreting Tumor and the Bannayan-Riley-Ruvalcaba Syndrome

“…The constellation of lipoma, early onset macrocephaly with normal ventricular size, normal childhood stature, pigmented penile lesions, absence of marked mental retardation, and the phenomenon of transient marked wasting associated with a cytogenetic abnor- mality in the vicinity of PTEN support the diagnosis of BRR (35,36). Although tumors of embryonal and nonembryonal origin occur in a number of overgrowth syndromes (32), hCG-secreting tumors have not been associated with any overgrowth syndromes, and the only reported associations seem to be with Down syndrome and Klinefelter syndrome (37,38). To our knowledge, this case is the first report of a hCG-secreting intracranial tumor in an individual with BRR.…”

Puberty Today, Gone Tomorrow: Transient Refractory Central Precocious Puberty in a Toddler with End-Stage Kidney Disease

“…Elevated β-hCG levels have previously been reported in some adult women with CKD [24]. β-hCG-stimulated testosterone production is a well-known phenomenon given its high homology to LH [25], allowing it to bind to the shared β-hCG and LH receptor (LHCGR) on Leydig cells, in turn causing partial testicular growth and function (as may occur in certain germ cell tumors [26]).…”

Hyperandrogenism and Hyperestrogenism Secondary to Mixed Germ-Cell Testicular Tumor

“…Prior reports have documented symptoms of androgen excess in males found to have testicular germ-cell tumors. Presenting symptoms and physical examination findings included gynecomastia [ 6 ], infertility [ 8 ], precocious puberty [ 9 ], worsening acne, and increasing muscle mass [ 5 ]. It was suspected that elevated androgen levels were due to secondary Leydig cell hyperplasia from elevated human chorionic gonadotropin (hCG) [ 5 ].…”