Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

Table 1 Patient clinical details

Patient ID	Age at initial appointment	Gender		Clinical description				Associated malformations	Anosmia reported?	hCG stimulation test	Image provided?
		Genetic	Sex of rearing	Testes	Scrotum	Micropenis	Urethral meatus (type of hypospadias)			Increased T?
173	12	46,XY	Male	Bilaterally non palpable	Bifid	Yes	Scrotal	Spina bifida	Unknown	Moderate
143	6	46,XY	Male	R, not palpable L, 1 ml, scrotal	Bifid	Yes	Scrotal		No		Figure 1b
159	2	46,XY	Male	R, 1 ml, scrotal L, fetractile	Bifid	No	Perineal		Unknown
171	4	46,XY	Male	R, 1–2 ml, scrotal L, 2 ml, scrotal	Bifid	Yes	Scrotal		No	Yes	Figure 1a
47	3	46,XY	Female, changed to male at 3 years	R, 2 ml, scrotal L, not palpable	Bifid	Yes	Scrotal		No	Yes
174	3	46,XY	Male	R, not palpable L, 1 ml, scrotal	Fused	Yes	Penoscrotal		No	Yes
164	3	46,XY	Male	Bilaterally 2 ml, scrotal	Bifid	No	Penoscrotal		No	Yes
163	10	46,XY	Male	Bilaterally 3 ml, scrotal	Bifid	Yes	Penile		No	Yes	Figure 1c
147	1 m	46,XY	Male	R, inguinal L, not palpable	Bifid	No	Scrotal		No	Yes
101	3	46,XY	Male	Bilaterally 2 ml, scrotal	Bifid	Yes	Scrotal		Unknown	Yes	Figure 1d
169	14	46,XY	Male	R, 4 ml, scrotal	Bifid	no	Penoscrotal		No	Yes
169	14	46,XY	Male	L, 6 ml, scrotal	Bifid	no	Penoscrotal		No	Yes

Patient identification number and age at first consultation are shown, as well as sex chromosome complement and gender. A description of anomalies is also included. Response to hCG stimulation is shown. Testosterone reference levels were considered as 0.3–0.5 nmol/l except for patients 169, 163 and 8 (where reference was considered 3–6.5 nmol/l)

ISSN: 1479-7364