Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone

Gubbels, Cynthia S.; Kuppens, Simone; Bakker, J.; Konings, Constantijn; Wodzig, K.W.H.; Velden, Monique G.M. de Sain–van der; Menheere, P. P. C. A.; Rubio‐Gozalbo, M. Estela

doi:10.1016/j.fertnstert.2008.12.031

Cited by 28 publications

(31 citation statements)

References 26 publications

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“…These findings, suggesting mature arrest, have also been observed in patients with FSHR inactivating mutations and other genetic diseases affecting the ovary [77]. Although girls with classic galactosaemia are often believed to be infertile, fluctuating POI course and spontaneous pregnancies have been reported, even with low AMH, latter being the indicator for poor ovarian reserve [79,80]. Mechanisms and timing of follicle development disturbance are still unclear.…”

Section: Metabolic Disordersmentioning

confidence: 88%

An update on primary ovarian insufficiency

Jin

Huang

2012

Sci. China Life Sci.

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Primary ovarian insufficiency (POI) occurs in about 1% of female population under the age of 40, leading to reproductive problems, an earlier encounter with menopausal symptoms, and complicated diseases. There are three presumable mechanisms involved in the development of POI, namely apoptosis acceleration, follicular maturation blocking and premature follicle activation, through the following studied causes: (i) chromosomal abnormalities or gene mutations: mostly involve X chromosome, such as FMR1 premutation; more and more potentially causal genes have been screened recently; (ii) metabolic disorders such as classic galactosaemia and 17-OH deficiency; (iii) autoimmune mediated ovarian damage: observed alone or with some certain autoimmune disorders and syndromes; but the specificity and sensitivity of antibodies towards ovary are still questionable; (iv) iatrogenic: radiotherapy or chemotherapy used in cancer treatment, as well as pelvic surgery with potential threat to ovaries' blood supply can directly damage ovarian function; (v) virus infection such as HIV and mumps; (vi) toxins and other environmental/lifestyle factors: cigarette smoking, toxins (e.g., 4-vinylcyclohexene diepoxide), and other environmental factors are associated with the development of POI. The etiology of a majority of POI cases is not identified, and is believed to be multifactorial. Strategies to POI include hormone replacement and infertility treatment. Assisted conception with donated oocytes has been proven to achieve pregnancy in POI women. Embryo cryopreservation, ovarian tissue cryopreservation and oocyte cryopreservation have been used to preserve ovarian reserve in women undergoing cancer treatments. Primary ovarian insufficiency (POI), commonly referred to as premature ovarian failure (POF), is defined as the occurrence of amenorrhea (for 4 months or more) before the age of 40 in women, accompanied with an increase of serum FSH to menopausal level (usually over 40 IU L 1 , obtained at least 1 month apart), and estradiol levels less than 50 pg mL 1 (which indicate hypoestrogenism) [1]. Primary ovarian insufficiency is first brought to light by Fuller Albright in 1942, who emphasized that the end stage of ovarian function is the primary defect rather than abnormality in gonadotropin secretion [2], and avoided the discomforting and inaccurate stressing on "failure", like death-sentence for ovarian function and conception.Menopause is a destined phase of women, which is expected to occur at around the age of (50±4) years in US women [3]. The age of 40 is two standard deviations below this average [4]. With an incidence of 1% in women under the age of 40, and 0.1% in women under the age of 30 [5], POI renders patients estrogen deficiency and anovulation, resulting in vasomotor symptoms (hot flashes and night sweats), atrophic vaginitis, dyspareunia, primary or secondary amenorrhea, and infertility. 76% of POI cases developed after normal puberty and establishment of regular menses [6]. Some of such conditions occur after stopping...

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Section: Metabolic Disordersmentioning

confidence: 88%

An update on primary ovarian insufficiency

Jin

Huang

2012

Sci. China Life Sci.

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“…However, a single case report of spontaneous pregnancy despite undetectable AMH levels exists. 2 Before her second clinical presentation of POF and confirmation with an undetectable AMH level, referral was made to a fertility program to discuss advanced reproductive technologies, ovum donation or ovarian tissue cryopreservation, and whether the latter would be appropriate for a patient with galactosemia. It should be noted, however, that spontaneous pregnancy is a possibility with galactosemia and patients should be counseled accordingly.…”

Section: Discussionmentioning

confidence: 99%

Spontaneous Recovery of Ovarian Function in an Adolescent with Galactosemia and Apparent Premature Ovarian Insufficiency

Davies

Connor

MacKenzie

et al. 2015

Journal of Pediatric and Adolescent Gynecology

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“…Classic biomarkers of ovarian follicular reserve such as FSH and anti-M€ ullerian hormone (AMH) are also used in patients with galactosemia, with AMH being better correlated with the clinical course (23). However, even when AMH is undetectable, spontaneous pregnancy cannot be excluded (24). Histologic evaluation of ovarian biopsy specimens in patients with galactosemia has shown the presence of normal folliculogenesis in neonatal ovaries, in contrast with partially or totally depleted ovaries in adolescents or young adults (8,25,26).…”

Section: Discussionmentioning

confidence: 99%