Dynamics of Ovarian Function in an Adult Woman with McCune-Albright Syndrome

Laven, Joop S.E.; Lumbroso, Serge; Sultan, Charles; Fauser, Bart C.J.M.

doi:10.1210/jc.86.6.2625

Cited by 14 publications

(25 citation statements)

References 38 publications

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“…This case represents the second longitudinal assessment of ovarian dysfunction in a woman suffering from MAS (13). Although similar to the case reported by Laven et al one important difference was the identification of the mutation in both ovaries.…”

Section: Discussionsupporting

confidence: 76%

“…Regarding the gonadal function, only a few reports about fertility and regular menses are available (11,12). Anovulatory cycles and irregular menses have also been described (13,14). Laven et al (13,15) were the first to report on the dynamics of ovarian function and management of infertility with unilateral ovariectomy in an adult woman with unilateral MAS.…”

Section: Introductionmentioning

confidence: 99%

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Restoration of ovulation after unilateral ovariectomy in a woman with McCune–Albright syndrome: a case report

Lavoué¹,

Morcel²,

Bouchard³

et al. 2008

European Journal of Endocrinology

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Introduction: McCune-Albright syndrome (MAS) is characterized by peripheral precocious puberty, café-au-lait spots, and polyostotic fibrous dysplasia. This syndrome is due to a post-zygotic mutation of the GNAS1 gene with mosaic distribution and unilateral predominance. Clinical manifestations depend on the tissues carrying the mutation. We describe the ovarian function before and after unilateral ovariectomy in a woman with MAS and bilateral distribution of the GNAS1 gene mutation. Case report: A 33-year-old patient, previously diagnosed as having MAS, presented irregular menstrual cycles (30-180 days) and monophasic temperature curves. Transvaginal ultrasound and blood tests were repeated at 3-day intervals over 3 months. Findings included a persistent quiescent left ovary, a persistent polycystic right ovary, constantly high estradiol-17b (E 2 ) levels, and very low FSH and LH levels. She also presented severe persistent pelvic pain. Because of unilateral ovarian activity, a unilateral right ovariectomy was performed as well as biopsy of the remaining left ovary. A GNAS1 gene mutation was identified in both ovaries. A regular monthly menstrual cycle was immediately restored. On day 3 of the menstrual cycle, E 2 level was 30 pg/ml, FSH level was 7.5 mIU/ml, and LH level was 6.4 mIU/ml. On day 17, pelvic ultrasound showed one follicle of 25 mm in the left ovary. On day 21, the progesterone level was 13.1 ng/ml. Discussion: This is the first report of ovulation being restored following unilateral ovariectomy in an adult patient suffering from severe MAS with GNAS1 gene mutation identified in both ovaries.

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Section: Discussionsupporting

confidence: 76%

Section: Introductionmentioning

confidence: 99%

Restoration of ovulation after unilateral ovariectomy in a woman with McCune–Albright syndrome: a case report

Lavoué¹,

Morcel²,

Bouchard³

et al. 2008

European Journal of Endocrinology

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“…Ovarian cysts are typical of PPP in MAS being caused by the autonomous activation of follicular cells leading to hypercellularity and estrogen hypersecretion 9 . The cysts can be considered the morphological expression of follicular hyperactivation as well as the consequence of increased local estrogen levels 9 .…”

Section: Discussionmentioning

confidence: 99%

McCune-Albright Syndrome: Persistence of Autonomous Ovarian Hyperfunction During Adolescence and Early Adult Age

Matarazzo

Lala²,

Andréo³

et al. 2006

Journal of Pediatric Endocrinology and Metabolism

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Gonadal hyperfunction is the most frequent endocrine dysfunction in females with McCune-Albright syndrome (MAS). Peripheral precocious puberty is usually the first MAS manifestation in children, characterized by episodes of hypersecretion of estrogens with a consequent reduction in gonadotropin secretion. Little is known about the course of this endocrine disease in adolescence and during young adult life. The aim of this study was to evaluate ovarian function in 10 females with MAS (age 11.4-20.1 years) to detect the persistence of autonomous ovarian hyperfunction throughout and following adolescence, after at least 1 year wash out of any treatment for precocious puberty. LH, FSH, estradiol, prolactin, androgen secretion, ovarian and breast sonography in luteal and follicular phases of some menstrual cycles were evaluated. We demonstrated the persistence of some ovarian autonomy, documented by hyperestrogenism and/or low or absent gonadotropin secretion and/or ovarian cysts.

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“…The most frequent and usually the first endocrine feature is GIPP 15,16 , and the autonomous ovarian function may persist well into adulthood 17,18 . In fact, menstrual bleeding under 2 years of age has been the first symptom of MAS in 85% of patients 1 .…”

Section: Discussionmentioning

confidence: 99%

McCune-Albright Syndrome (MAS): Early and Extensive Bone Fibrous Dysplasia Involvement and “Mistaken Identity” Oophorectomy

Gucev¹,

Tasić²,

Jancevska³

et al. 2010

Journal of Pediatric Endocrinology and Metabolism

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Background: McCune-Albright syndrome (MAS) is a triad of gonadotropin-independent precocious puberty (GIPP), café-au-lait spots (CALS) and fibrous dysplasia (FD) of bone. The extent of the abnormalities is variable. Patient and results: We report a 3 year old girl with CALS since infancy, FD diagnosed at age of 2.5 years, and at the age of 3 years vaginal bleeding. The ultrasound revealed a cystic mass of the ovary, surgical pathology found ovarian cyst. LHRH stimulation demonstrated GIPP (LH 9.8 mIU/ml and FSH 8.9 mIU/ml; normal LH 1.8-10, FSH 9-26 mIU/ml). Radiographs and bone scans demonstrated FD in multiple bones. Peripheral leucocytes and the ovary were negative for GNAS gene mutations. Treatment with Letrasole interrupted the pubertal development. Conclusions: We conclude that the clinical signs of MAS are telling and that timely MAS diagnosis prevents unnecessary oophorectomy. A close follow up is recommended regarding development of endocrine disorders and spreading of FD.

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Dynamics of Ovarian Function in an Adult Woman with McCune-Albright Syndrome

Cited by 14 publications

References 38 publications

Restoration of ovulation after unilateral ovariectomy in a woman with McCune–Albright syndrome: a case report

Restoration of ovulation after unilateral ovariectomy in a woman with McCune–Albright syndrome: a case report

McCune-Albright Syndrome: Persistence of Autonomous Ovarian Hyperfunction During Adolescence and Early Adult Age

McCune-Albright Syndrome (MAS): Early and Extensive Bone Fibrous Dysplasia Involvement and “Mistaken Identity” Oophorectomy

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