Table 1.

Prenatal and Postnatal Presentation in 19 Patients Affected by PORD

Patient Number	Genotype	Karyotype	Malformations Detected by Prenatal Ultrasound	Total Malformation Score at Birtha	Maternal Androgen Excess	DSD Detected by Prenatal Ultrasound	DSD Evident at Birth	Outcome	Follow-Up Period
1	IVS7 + 2dupT/p.Q455RfsX90	XY	Y	15	N	N	Y	Death at 19 mo	19 mo
2	p.A287P/ IVS6-2A>T	XY	Y	15	Y	Y	Y	Developmental delay, death at age 2 y	2 y
3	p.A287P/ IVS6-2A>T	XX	Y	15	Y	N	N	Delayed motor and speech development	23 mo
PORD B	p.A287P/p.I444HfsX6	XY	Y	>10b	n.d.	Y	Y	TOP gestational wk 25	TOP gestational wk 25c
PORD C	p.A287P/p.Q455Rfs166X	XX	Y	12	N	N	N	Death at d 69	69 d
4	p.A287P/p.V472AfsX102	XY	N	10	N	N	Y	Conductive hearing loss, normal intelligence	11 y
5	p.A287P/IVS8 + 1G>A	XX	N	9	N	N	Y	Normalc	11 y
6	p.A287P/p.G188V191dup	XY	N	9	Y	N	Y	Delayed motor and speech development	23 mo
7	p.A287P/−	XX	N	9	Y	N	Y	Normal	9 y
PORD A	p.A287P/p.A287P	XY	N	8	N	N	N	Normal	4 y
8	p.R498P/p.R498P	XX	N	7	Y	N	N	Normal	1.5 y
9	p.A287P/p.A287P	XX	N	7	Y	N	Y	Normal	6 y
10	p.A287P/p.H628P	XX	N	7	N	N	Y	Conductive hearing loss at age 4 y, slightly delayed development	9 y
11	p.A287P/p.A287P	XX	N	5	N	N	Y	Normal	14 y
12	p.Y376 LfsX74/p.T142A	XX	N	5	N	N	N	Normal	20 y
13	p.R457H/p.A287P	XX	N	4	N	N	Y	Normal	16 y
14	p.A287P/Del exU1-1	XX	N	4	N	N	N	Normal	3.5 y
15	p.C569Y/p.Y181D	XX	N	4	N	N	Y	Normal	4 y
16	p.A287P/p.A287P	XY	N	4	N	N	N	Normal	7 y
17	p.C569Y/p.Y181D	XY	N	0	Y	N	N	Normal	2 y

Abbreviations: E3, estriol; −, no mutation detected; N, no; n.d., not determined; Y, yes. Bold indicates cases with visible malformations on prenatal ultrasound and a total malformation score above 10.

^aFor a detailed description of the PORD malformation score, please see published reference (8).

^bThe malformation score for case PORD B is likely to be underestimated as scoring based on postmortem report rather than clinical examination.

^cNormal, normal postnatal development in terms of growth, speech, motor, and cognitive function.