Ovarian Function in Girls with McCune-Albright Syndrome

Foster, Carol M.; Feuillan, Penelope; Padmanabhan, Vasantha; Pescovitz, Ora Hirsch; Beitins, Inese Z.; Comite, Florence; Shawker, Thomas H.; Loriaux, D. Lynn; Cutler, Gordon B.

doi:10.1203/00006450-198609000-00010

Cited by 49 publications

(16 citation statements)

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“…However, the B-LH increase correlated well with physiologic signs of puberty, suggesting that the earlier I-LH-like material was biologically inert. Immunoreactive FSH and bioactive FSH concentrations during puberty show a similar relationship (24). The meaning of these measurement differences are not known.…”

Section: Discussionmentioning

confidence: 67%

Pulsatile Release of Bioactive Luteinizing Hormone in Prepubertal Girls: Discordance with Immunoreactive Luteinizing Hormone Pulses

et al. 1987

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ABSTRACT. An assessment of pulsatile secretion of luteinizing hormone (LH), measured by both immunoassay (I-LH) and rat interstitial cell testosterone production bioassay (B-LH), as well as of folicle-stimulating hormone and glycoprotein hormone a-subunit was carried out in seven normal prepubertal and six normal premenarcheal pubertal girls. Samples were obtained at 20-min intervals for a 6-h period. The hormone secretion profiles were analyzed by several computerized methods yielding pulse frequency and amplitude, interpulse basal levels, and percentage increments, with bio/immuno ratios calculated for peak and basal concentrations. In these prepubertal girls, mean B-LH levels were 12% of I-LH, with B/I ratio of 0.13; 30% of samples were below assay sensitivity (0.10 mIU/ml) for B-LH, but all I-LH (1.25 mIU/ml) were detectable. In the pubertal group, B-LH levels were 30% of I-LH, with mean B/I ratio of 0.24 and undetectable B-LH in 29% of samples. Pulsatile secretion in prepubertal girls was found in five of seven (11150 min) for B-LH and six of seven (11212 min) for I-LH; only two of six pubertal girls had detectable pulses. Discordance of B-and I-LH pulses were frequent, with 56% of B-LH pulses lacking an I-LH pulse and 47% of I-LH pulses not having a B-LH pulse. These data demonstrate that 1) both B-and I-LH are secreted episodically in prepubertal girls; 2) I-LH-like material is present in higher concentrations than B-LH in these girls; and 3) substantial discordance of B-and I-LH pulses exist. Such findings lend further support for molecular heterogeneity of pituitary gonadotropins during the pubertal process and suggest that changes of biopotency may be important functional regulators of the early pubertal process. (Pediatr Res 21: 409-413, 1987) Abbreviations LH, luteinizing hormone FSH, follicle-stimulating hormone RIA, radioimmunoassay(s) B-LH, bioactive luteinizing hormone I-LH, immunoreactive luteinizing hormone GnRH, gonadotropin-releasing hormone the onset of puberty is an increase in the frequency, as well as amplitude, of GnRH pulses from the hypothalamus which is translated into gonadotropin secretory pulses from the pituitary. Increased LH pulse frequency and amplitude, as measured by I-LH have been demonstrated in early pubertal children (1-4). In addition, the mean I-LH levels have been shown to rise with advancement of puberty in both cross-sectional and longitudinal studies ( 5 , 6).Pituitary gonadotropins are known to be heterogeneous. Therefore, in addition to changes in the quantity of gonadotropins, as measured by immunoassays, the quality of gonadotropins as measured by in vitro bioassays and on isoelectric focusing have been shown to change (7-10). In general the B-LH levels in serum have exceeded those of I-LH in both cross-sectional (I I ) and longitudinal studies during puberty in both boys and girls (12). In mature men and women the B/I ratio of LH is increased during endogenous LH pulses and there exists an overall concordance between the B-LH and I-LH pulses in excess of 80%...

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Section: Discussionmentioning

confidence: 67%

Pulsatile Release of Bioactive Luteinizing Hormone in Prepubertal Girls: Discordance with Immunoreactive Luteinizing Hormone Pulses

et al. 1987

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“…The most frequent endocrine presentation in MAS is gonadotropin-independent precocious puberty in girls. Precocious puberty is due to autonomous ovarian hyperfunction with low gonadotropin levels (2). Other hyperfunctional endocrinopathies include hyperthyroidism, autonomous adrenal hyperplasia, secreting pituitary adenomas, and hypophosphatemic osteomalacia (1).…”

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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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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“…Several features in our two patients, failure to respond to a GnRH analogue (Case 1), dysconsonant pubertal maturation [6] (Cases 1 and 2), low basal gonadotrophin secretion (Cases 1 and 2) and ovarian asymmetry (Case 2), were suggestive of gonadotrophinindependent precocious puberty. Neither girl had the ovarian morphological appearance on ultrasound of the McCune-Albright syndrome [4]. Certainly both girls responded well to cyproterone acetate therapy which acts directly on the gonad and is predominantly independent of gonadotrophin secretion [7].…”

Section: Discussionmentioning

confidence: 96%