Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

BMC Pediatrics

Table 3 Characteristics of 7 patients with familial form of anorchia

Case	Testes at birth		Age at first evaluation	Testosterone (ng/mL)	LH (IU/L)	FSH (IU/L)	Inhibin B (pg/mL)	AMH (pmol/L)	Parent (family history)
	Right	Left
26	p	np	1d	ND	<0,4^b	<0,4^b	und	5	mother and fetus sister (see Results)
27	p	p	1.3y	und	5.5	68	und	2.5	mother (see Results)
28	torsion at birth	torsion at birth	3.2y	0.15	6^b	34^b	ND	ND	father (secondary infertility with oligoasthenospermia)
29	ND	ND	2y	und^a	<0,2^b	18^b	ND	und	father (increased basal plasma FSH concentration (12 IU/L) at 38 y)
30	ND	ND	6.2y	und^a	0.5	0.05	und	und	mother (cryptorchidism in cousin)
31	ND		8.2y	ND		2.8	und	und	father (cryptorchidism in son of sister)
32	np	np	13.6y	0.09	25	122	ND	ND	mother (premature menopause at 28 y)

ISSN: 1471-2431