Table 2.

Clinical characteristics, histopathology of the gonad removed and hormonal profile, semen analysis and karyotype of phenotypic men with evidence of ovulation.

					Gallegos et al. (5)
Paper	Parvin (1)	Perez-Palacios et al. (2)	Ceci et al. (3)	Kanaka-Gantenbein et al. (4)	Case 1	Case 2	Case 3	Our case
Age at presentation (year)	32	16	22	13	15	13	11	18
Presenting symptom	Pain in R testis	Bl gynaecomastia	Pain in R testis	L scrotal pain following injury	Familial, siblings			Pain and mass in L testis
Duration	1 week	NR	2 days	NR	NR			2 days
Phenotype	Male	Male	Male	Male	Male	Male	Male	Male
H/o cryptorchidism	+	+	–	–	–	–	–	+
Fertility	+	NA	NR	NR	NA	NA	NA	Azoospermic
Relevant past history	Testicular pain age 24 years	Thelarche at 14 year	L hypospadias, b/l mammoplasty	L inguinal hernia at 6 months of age	Hypospadias, Bl gynaecomastia	Hypospadias, Bl gynaecomastia	Hypospadias	Benign extra adrenal ganglioneuroma, lip capillary haemangioma, Henoch-Schonlein purpura
Examination	Small, hard, tender R testis over pubic tubercle, normal Lf testis	Bl gynaecomastia, 5.5 cm penis, 2.5 mL R testis and absent Lf testis	Atrophic R testis and rubbery hard large left testis	Acne, gynaecomastia, pubic hair stage 5, normal penis, tender Lf scrotum, R testis 5–16 mL	Scrotal gonads	Scrotal gonads	Scrotal gonads	Tanner stage 4 puberty, small Bl gynaecomastia, L testis 8 mL with a tender solid 2 cm mass, large Lf hydrocele, R testis atrophic 1 mL
Primordial follicles	+	+	+	+	+	+	+	+
Corpus luteum	–	Hemorrhagic	+	Hemorrhagic	NR	NR	NR	+
Corpus albicans	+	–	+	NR	NR	NR	NR	+
Fallopian tube	+	+	+	+	–	–	–	–
uterus	–	+ endometrial bleed	+	+	–	–	–	–
Ovotestis	+	+	+	–	+	+	+	+
Testicular tissue	–	+	Rudimentary epididymis	+ in contralateral gonad	+	+	+	+
Leydig cells	–	+	–	–			+	+
Sertoli cells	–	+	–	+	+	+		+
Seminiferous tubules	–	+	–	+	+	+	+	+
Spermatogenesis	–	Spermatogia	–	Spermatogia	–	–	–	–
FSH (IU/L)	7.6	5.5	26.3	20*				13
LH (IU/L)	7.4	11	9.8	8.2*				8
T (nmol/L)	24.5	2.4	15.5	9.1*				4.5
E2 (pmol/L)	NR	180	135	36.7*				–
P4 (nmol/L)	NR	1.2	NR	NR				–
Semen analysis	15 × 106 sperm/mL 60% motile	NA	NR	NR	NA	NA	NA	Azoospermia
Karyotype peripheral blood	46,XX/46,XY Chimera (81%, 19%)	46,XX/47XXY (72%, 28%)	46,XX/46,XY Chimera (11%, 89%)	46,XX/47,XXY (70%, 30%)	46,XX, no Y detected	46,XX, no Y detected	46,XX, no Y detected	46, XX, SRY −ve
Karyotype gonadal tissue	_	46,XX/47XXY	_	46,XX/47XXY	46,XX/47XXY	46,XX/47XXY	46,XX/47XXY	46,XX, SRY −ve

^*2 weeks post gonadectomy.

Bl, bilateral; E2, estradiol; L, left; NA, not applicable; NR, not reported; P4, progesterone; R, right; T, testosterone.