Primary ovarian insufficiency: a more accurate term for premature ovarian failure

Abstract

Premature ovarian failure (POF) is a disorder with a complicated clinical presentation and course that is poorly defined by its name. A more scientifically accurate term for the disorder is primary ovarian insufficiency (POI), a term that can be appropriately modified to describe the state of ovarian function. In recent years, the known aetiologies of POI have expanded, although the cause of POI in a majority of clinical cases remains undefined. The most common aetiologies should be ruled out clinically including chromosomal abnormalities, fragile X premutations and autoimmune causes. Management should be directed at symptom resolution and bone protection, but most importantly should include psychosocial support for women facing this devastating diagnosis.

Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study

“…Despite reduced seminal characteristics or impaired ovarian function, all infertile patients included had the potential to conceive naturally. 19,20 Serum FSH levels were quantified with an electrochemoiluminescence immunoassay (Roche Diagnostics, Rotkreuz, Switzerland), with a detection range between 0.1 and 200 IU/l. For FSH, the interassay coefficient of variation varied between 2.0 and 3.5%.…”

Genetics of primary ovarian insufficiency: a review

“…Amongst them we highlight Turner syndrome or monosomy X (45,X), in which most women present gonadal dysgenesis with primary amenorrhea, loss of ovarian reserve before puberty, as oocytes need two active X chromosomes. Approximately 10 % of them reach menarche, a lower percentage than in the cases of 45,X/46,XX mosaicism, 40 % of whom can menstruate for several years before developing complete POI [4]. One candidate gene for gonadal dysgenesis in these patients is USP9X (Ubiquitin-Specific Protease 9), which escapes the X inactivation process and is located on chromosome Xp11.4, a critical region for ovarian development [10]; see Table 1.…”

“…Similarly, mutations in the LHR (Luteinizing Hormone Receptor) gene encoding the LH receptor, which is essential for ovulation, result in resistance to LH, be it rare, causing primary and secondary amenorrhea, a high serum LH and LH/FSH ratio and infertility, as seen in patients with male relatives affected by Leydig cell hypoplasia [43]. The mutations in the genes encoding the β subunit of FSH and LH are related to cases of primary and secondary amenorrhea, and with low and normal FSH levels, respectively, so this is not strictly considered to be POI, but secondary ovarian insufficiency [4].…”

“…Locus Other diseases associated FSHR [41,10] 2p21-p16 Ovarian hyperstimulations yndrome, mucinous cystadenocarcinoma LHR [43] 2p21 Precocious puberty, Leydig cells hypoplasia FSHβ [4] 11p13 Follicle-stimulating hormone deficiency, isolated, pandas LHβ [4] 19q13.32 Frozen shoulder, hypogonadism GNAS [21] 20q13.3 Pseudohypoparathyroidism, Mccune-albrightsyndrome FOXL2 [44] 3q22-q23 Blepharophimosis, blepharophimosis, ptosis and epicanthus inversus syndrome GALT [46] 9p13 Galactosemia, galactokinasedeficiency AIRE [47] 21q22.3 Candidiasis, autoinmunepolyendocrinesyndrome StAR [48] 8p11.2 Lipoid adrenal hyperplasia CYP17A1 [49] 10q24.3 17-alpha-hydroxilase-deficient congenitaladrenalhyperplasia CYP19A1 [71], [50] 15q21.1 Aromatasedeficiency, Leydig cell tumor…”

“…However, there are presently no single screening tests that can predict a woman's reproductive lifespan [3]. Given the existing continuum of impaired ovarian function observed in this event, the term POI is more accurate than the term premature ovarian failure (POF), which has been classically used in the literature, because more often than not, there is no specific endpoint [4]. In fact, the new terminology allows us to include the following events in the definition of POI: hypergonadotropic hypogonadism, premature ovarian failure and ovarian dysgenesis.…”