Table 1 Studies addressing contraceptive use in IMD

Cystathionine β-synthase deficiency

Avoid estrogen-containing contraception due to increased risk of thrombosis

Morris et al. [5]

Galactosemia

Counsel about adequate birth control methods as hormonal methods of cycle control may fail to prevent pregnancy in women with elevated FSH. IUD may provide the lowest failure rate

Welling et al. [34]

Counsel patients that they have reduced fertility, not complete infertility

van Erven et al. [34]

All oral contraceptive pills (OCP and POP) contain lactose as binding agents, recommend alternative methods

Gaucher Disease

No known contraindications for CHC or progesterone-only contraception unless there is severe liver involvement

Granovsky-Grisaru et al. [35], Granovsky-Grisaru et al. [36]

Avoid copper IUDs if patient is at risk for menorrhagia

Granovsky-Grisaru et al. [36]

Contraception must be used by both men and women who are receiving Miglustat

Cox et al. [37]

Glycogen Storage Disease I

Avoid ethinylestradiol due to the link with hepatic adenomas. Recommend POP

Mairovitz et al. [6], Sechi et al. [7]

Progestin-only contraceptives may have risks of reduced bone mineral density

Kishani et al. [11]

Glycogen Storage Disease Ib

Avoid use of IUDs due to potential risk of increased infection

Kishani et al. [11]

Glycogen Storage Disease III

Avoid estrogen-containing contraception due to risk of hepatic adenomas. If using progesterone-only contraceptive, monitor for reduced bone mineral density

Kishani et al. [38]

Familial Hypercholesterolemia

Recommend low estrogen-containing oral contraceptives, IUD, and barrier techniques. For women older than 35 years, IUDs and barrier techniques are preferred

Balla et al. [12], Watts et al. [39]

Counsel on contraception prior to starting statin with reinforcement provided annually

Balla et al. [12], Watts et al. [39]

Hereditary Hemochromatosis

Use shared decision-making if menstrual suppression is indicated due to potential risk of elevated ferritin and need for phlebotomy

Kalinowski et al. [40]

Methylmalonic Acidemia/Propionic Acidemia

There are no known contraindications for the use of hormonal contraception. Discuss contraception and sexual health during adolescence

Baumgartner et al. [14]

Niemann Pick C

Contraception must be used by both men and women who are receiving Miglustat

Wraith et al. [41]

Phenylketonuria

Recommend the most effective form of contraceptive

van Wegberg et al. [8], AAP [15]

Prior to conception, continue contraception until phenylalanine levels are within target range for at least 2 weeks

van Wegberg et al. [8], van Spronsen et al. [42]

Begin age-related sexual education and guidance on risk for maternal PKU syndrome at age 12

van Wegberg et al. [8], AAP [15], Camp et al. [43]

Develop a robust transition program so that young adult women are not lost to follow-up

van Wegberg et al. [8]

Wilson’s disease

Avoid estrogen-containing contraception and copper IUD. Recommend progesterone-only contraception, barrier methods, and spermicides

Connolly et al. [44], Haimov-Kochman et al. [45]; EASL [46], Kathawala [47], Patil et al. [48]