Postpubertal Persistent Hyperestrogenemia in McCune-Albright Syndrome: Unilateral Oophorectomy Improved Fertility but Detected an Unexpected Borderline Epithelial Ovarian Tumor

Chevalier, Nicolas; Paris, Françoise; Fontana, Sylvie; Delotte, J.; Gaspari, Laura; Ferrari, P.; Sultan, Charles; Fénichel, Patrick

doi:10.1016/j.jpag.2015.04.001

Cited by 12 publications

(14 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In their paper, Matarazzo et al demonstrated the persistence of an intermittent autonomous ovarian hyperactivity at least 1 year after therapy withdrawal in 80% of female adolescents and young adults with MAS ( 13 ). Similar results have been reported by other authors in smaller cohorts of patients ( 15 – 17 ).…”

Section: Ppp In Girlssupporting

confidence: 92%

See 1 more Smart Citation

Peculiarities of Precocious Puberty in Boys and Girls With McCune-Albright Syndrome

et al. 2018

View full text Add to dashboard Cite

McCune-Albright Syndrome (MAS; OMIM # 174800) is a rare, sporadic disease caused by a post-zygotic, activating mutation in the guanine-nucleotide binding protein α-subunit (GNAS1) gene. MAS is characterized by the clinical triad of polyostotic fibrous dysplasia of bone, café-au-lait skin pigmentation and peripheral precocious puberty. However, clinical presentation is highly variable depending on mosaic tissue distribution of mutant-bearing cells. Precocious puberty is the most common endocrine manifestation of MAS and is often the presenting, and sometimes the only, clinical sign of MAS. Due to the very low prevalence of MAS, data on course of precocious puberty, effectiveness of treatments and gonadal function during post-pubertal period are lacking. Our knowledge on this issue derives essentially from case reports and small cohorts of patients. The aim of this review is to report all available literature data on clinical aspects, therapeutic management and outcomes of precocious puberty in children with MAS. A systematic research was carried out through MEDLINE via PubMed, EMBASE, Web of Science, Semantic Scholar, Cochrane Library.

show abstract

Section: Ppp In Girlssupporting

confidence: 92%

“…In another 22-year-old MAS girl, unilateral ovariectomy, performed to restore regular menses, revealed a borderline epithelial ovarian tumor, therefore these authors suggested that early, prolonged acyclic hyperestrogenemia may enhance the risk of this estrogen-dependent cancer ( 17 ).…”

Section: Ppp In Girlsmentioning

confidence: 99%

Peculiarities of Precocious Puberty in Boys and Girls With McCune-Albright Syndrome

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Somatic mutations of GNAS have been implicated in various sporadic endocrine and non - endocrine tumors, such as pituitary adenomas ( Landis et al, 1989 ; Yoshimoto et al, 1993 ; Riminucci et al, 2002 ; Vortmeyer et al, 2012 ; Freda et al, 2007 ), thyroid adenomas and carcinomas ( Collins et al, 2003 ; Yoshimoto et al, 1993 ; Lyons et al, 1990 ; O'Sullivan et al, 1991 ; Palos-Paz et al, 2008 ; Lu et al, 2016 ), Leydig cell tumors ( Fragoso et al, 1998 ), ovarian tumors ( Boussaïd et al, 2013 ; Chevalier et al, 2015 ), breast cancer ( Collins et al, 2012 ; Scanlon et al, 1980 ; Tanabeu et al, 1998 ; Majoor et al, 2018 ), pancreatic and hepatobiliary tumors ( Parvanescu et al, 2014 ; Gaujoux et al, 2014 ; Gaujoux et al, 2019 ) leading to the term “gsp oncogene”.…”

Section: Discussionmentioning

confidence: 99%

“…Rare cases of testicular and ovarian malignancies were described in MAS: one patient with testicular cancer (both embryonal carcinoma and a seminoma) was reported by the NIH ( Boyce et al, 2012 ). One case of ovarian virilizing sclerosing-stromal tumor and one case of ovarian epithelial tumor harboring a GNAS mutation were reported ( Boussaïd et al, 2013 ; Chevalier et al, 2015 ).…”

Section: Discussionmentioning

confidence: 99%

GNAS mutated thyroid carcinoma in a patient with Mc Cune Albright syndrome

et al. 2020

View full text Add to dashboard Cite

Mc Cune-Albright syndrome (MAS) is a rare disorder defined by the triad of polyostotic fibrous dysplasia, “café au lait” skin hyperpigmentation and hyperfunctioning endocrinopathies, such as precocious puberty. MAS is caused by an activating post zygotic somatic mutation of GNAS gene, coding for the alpha-subunit of the stimulatory G protein (Gsalpha). In endocrine tissues, this mutation results in overproduction of hormones and endocrine cell hyperfunction and proliferation. Whereas the association of hyperthyroidism and thyroid adenomas is well known in MAS, the relation with thyroid carcinoma has rarely been observed. We report the occurrence of a thyroid carcinoma in an 18-years old woman with MAS, revealed by subclinical hyperthyroidism detected during her systematic annual follow-up. Ultrasound and thyroid scintigraphy revealed the presence of a nodule in the right lobe. Pathology on hemithyroidectomy revealed an unexpected thyroid follicular carcinoma. Neoplastic thyroid cells harbored the GNAS R201C activating mutation. This observation suggests that MAS may predispose patients to thyroid carcinomas and supports the importance of thyroid assessment by physical examination, hormonal blood test and ultrasound, in the follow-up of patients with MAS. Because ultrasound diagnostic is challenging in MAS, needle puncture of palpable nodules should be advised.

show abstract

“…GnRh analogues are found to be beneficial in cases of central precocious puberty. Surgical methods such as unilateral oophorectomy and cystectomy are also found to be effective [2]. There is limited experience of such patients in adulthood.…”

mentioning

confidence: 99%