Table 2.

Spontaneous puberty, sex hormone replacement and possibility of fertility in subjects with DSD conditions and hypogonadotropic hypogonadism.

	Spontaneous puberty	Sex hormone replacement	Fertility options	References
Dysgenetic gonads
CGD, 46,XX and XY females	No	Yes	If uterus present, oocyte donation	22, 23, 24
PGD:males, 46,XY	57–85%	17–25%	Azoospermia microTESE and ICSI; oigozoospermia ICSI
PGD: females, 46,XX	Not reported	Yes	If uterus present, oocyte donation
MGD: males	EMS < 5, 63%EMS > 5, all	EMS < 5, allEMS >5, 25%	Azoospermic in 80%; microscopic focal spermatogenesis in 25%; ICSI; sperm donation	22, 25, 26
MGD: females	Possible	Yes	Uterus present, ART
Turner syndrome	In 21–50% if mosaicism; menarche 15–30%	Yes Almost all	Uterus present, ART If mosaicism, spontaneous pregnancy possible, 7%	27, 28
Klinefelter syndrome	Yes, normal start of puberty. Regression of testis	Yes, usually late in puberty or after puberty	Azoospermia, micro_TESE sometimes possible due to areas of preserved spermatogenesis	29, 30, 31, 32
46,XX males	Yes; 13% with cryptorchidism or hypospadias	May need hormone replacement; >90% elevated FSH and LH1/3 have low testosterone	Sperm donation	33
OvoTestis	Possible if gonadal tissue is present	Depends on the presence of gonadal tissue	Uterus in 31% spontaneous pregnancy described if ovarian tissue and 46,XX	26, 34
Males
Females
46,XY DSD
Steroid production	If gonads retained		Impaired spermatogenesis, TESE, ICSI ART	35, 36, 37
5αR	Yes	Common
17β-HSD	Yes	Common
CAIS	Yes	Yes	No	38
PAIS: males	EMS <5, 67%EMS >5, all	Yes, 83%	Azoo-oligozoospermia
PAIS: females	Yes, virilising	Yes	No
Hypopituitarism
Isolated	Seldom, spontaneous puberty may be late	Yes FSH/LH	Possible with FSH/LH treatment	See Table 5
MPHD	Variable	Variable	Possible
CDGP	Yes	No Initially at times	Yes
MRKH	Yes	no	Uterus transplantation, research basis	39

CDGP, constitutional delay of growth and puberty; CGD, complete gonadal dysgenesis; EMS, external masculinisation score 1–10 (1 lowest, 10 highest) (40); MGD, mixed gonadal dysgenesis; MPHD, multiple pituitary hormone deficiency; MRKH, Mayer–Rockytansky–Kuster–Hauser syndrome, PGD, partial gonadal dysgenesis.