Abstract
Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of female patients and is an important concern for patients and their parents. Healthcare providers are often consulted for subfertility treatment possibilities. An option brought up by the families is intrafamilial oocyte donation (mother-to-daughter or sister-to-sister). In addition to POI, galactosemia patients can also present varying cognitive and neurological impairments, which may not be fully clear at the time when mother-to-daughter oocyte donation is considered. Ethical and societal aspects arise when exploring this option. This study aimed to provide guidance in aspects to consider based on the views of different groups involved in the oocyte donation process. A qualitative study using in-depth semi-structured interviews with > 50 participants (patients, family members, and healthcare providers) was conducted. From these interviews, themes of concern emerged, which are illustrated and reviewed: (1) family relations, (2) medical impact, (3) patients’ cognitive level, (4) agreements to be made in advance and organization of counseling, (5) disclosure to the child, and (6) need for follow-up. We conclude that discussing and carrying out intrafamilial oocyte donation in galactosemia patients requires carefully addressing these themes. This study adds value to the already existing recommendations on intrafamilial oocyte donation in general, since it highlights important additional aspects from the perspectives of patients and their families.
Highlights
Primary ovarian insufficiency (POI) with subfertility is an important concern in classic galactosemia patients and their families
Classic galactosemia is a rare inherited disorder of galactose metabolism caused by severe deficiency of the second step in the main pathway for galactose catalyzed by galactose-1phosphate uridylyltransferase (GALT) (Coelho et al 2017)
Six main themes to consider when discussing this option were identified through these interviews: (1) family relations, (2) medical impact, (3) patient’s cognitive level, (4) agreements to be made in advance and organization of counseling, (5) disclosure to the child, and (6) need for follow-up
Summary
Primary ovarian insufficiency (POI) with subfertility is an important concern in classic galactosemia patients and their families. With a prevalence of > 80% in female patients, POI is the most common complication, representing the greatest psychological burden for women with this disorder (Kaufman et al 1986; Bosch et al 2004; Fridovich-Keil et al 2011). A galactose-restricted diet quickly relieves the initial severe illness, diet-independent complications occur later in life, including POI. Female patients present a wide phenotypic spectrum of POI that can vary from primary amenorrhea to normal pubertal development, but irregular or absent menstrual cycles at a later stage (Rubio-Gozalbo et al 2010; Fridovich-Keil et al 2011). Spontaneous pregnancies occur despite the presence of POI (Gubbels et al 2008; van Erven et al 2017), concerns about subfertility remain
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