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, 35 (7), 1209-1217

Cryopreservation of Ovarian Tissue May Be Considered in Young Girls With Galactosemia


Cryopreservation of Ovarian Tissue May Be Considered in Young Girls With Galactosemia

Linn Salto Mamsen et al. J Assist Reprod Genet.


Purpose: The aim was to describe the first experience with fertility preservation by cryopreservation of ovarian tissue (OTC) in pre-pubertal girls with galactosemia and further to characterize ovarian follicular morphology and expression of proteins important for ovarian function.

Methods: Retrospectively, follicle density was estimated in ovarian cortical tissues from 6 pre-pubertal girls below the age of 12 years diagnosed with galactosemia and from 31 girls below the age of 18 years who had one ovary removed for fertility preservation for other reasons prior to gonadotoxic treatment. Additionally, expression of 4 glycoproteins important for follicle development were analyzed with immunohistochemistry in two galactosemic ovaries (aged 0.9 and 1.7 years) and compared to normal age-matched controls. The proteins included were: anti-Müllerian hormone (AMH) pro-mature and C-terminal, growth differentiation factor-9 (GDF-9), bone morphogenetic protein 15 (BMP-15), and pregnancy-associated plasma protein A (PAPP-A).

Results: Girls with galactosemia below the age of 5 years presented with morphological normal follicles and follicle densities within the 95% confidence interval (CI) of controls. No follicles were detected in the ovary from an 11.7-year-old girl with galactosemia. Expression of AMH, GDF-9, BMP-15, and PAPP-A appeared similar in follicles from girls with galactosemia and controls.

Conclusions: These findings suggest that young girls with galactosemia maintain follicles in early childhood and fertility cryopreservation may be considered an option in this patient group. The pathophysiology of galactosemia leading to an accelerated follicle loss is unknown and it is currently unknown to what extent transplanted ovarian tissue can sustain fertility in adult life.

Keywords: AMH; BMP-15; Fertility preservation; GDF-9; Galactosemia; Ovarian function; PAPP-A; Premature ovarian failure.

Conflict of interest statement

Conflict of interest

The authors declare that they have no conflict of interest.


Fig. 1
Fig. 1
Follicular density (follicles/mm3) in ovarian cortex in 6 girls with galactosemia (circles) and in normal control ovaries (triangles). The lines illustrate the predicted follicular density and the 95% confidence intervals (CI). Girls with galactosemia below the age of 5 years have follicle densities similar to controls, whereas the girls with galactosemia aged 11.7 years had no follicles
Fig. 2
Fig. 2
Immunohistochemical detection of pro-mature and C-terminal AMH, GDF-9, BMP-15, and PAPP-A in ovarian cortex from two girls with galactosemia (aged 0.9 and 1.7 years old), together with controls (0.6 years and 19 days old). The evaluated proteins important for follicular health were detected both in follicles with galactosemia and in normal controls
Fig. 3
Fig. 3
Ovarian cortex from 5 girls below the age of 5 years with galactosemia had morphological normal primordial follicles, though no growing follicles were observed (A–E). A fraction of the follicles in (C) appeared to have lost the oocyte nucleus and be in a process of atresia. An age-matched control ovary (0.6 years old) had morphologically normal follicles (F)

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