Characteristics and clinical evaluation of X chromosome translocations

Table 2 Endocrine evaluation of females with X chromosome translocations

Case	Karyotype	AMH	FSH	LH	E2	PROG	PRL	TESTO
Case	Karyotype	(ng/ml)	(IU/L)	)mIU/mL)	(pg/ml)	(ng/ml)	(ng/ml)	(ng/dl)
1	46,X,t(X;22)(q25;q11.2)	< 0.01	114	30.90	< 5.00	< 0.05	24.60	7.90
2	46,X,t(X;8)(q13;q11.2)	0.01	34.80	17.06	15.37	< 0.10	9.41	25.78
3	46,X,der(X)t(X;5)(q21;q31)	< 0.01	6.60	1.69	23.70	0.68	20.0	73.90
4	46,X,t(X;5)(p22.3;q22)	2.44	3.74	10.50	106	2.64	23.6	37.90
5	46,X,t(X;14;4)(q24;q22;q33)	2.35	7.07	5.81	15.90	0.27	20.6	37.30
6	46,X,der(X)t(X;Y)(p22.3;q11.2)	1.39	6.26	4.27	32.90	0.20	11.4	< 2.50
7	46,X,der(X)t(X;Y)(p22.3;q11.2)	1.77	3.92	3.20	32.70	0.43	19.0	52.0

Seven females with X chromosome translocations underwent endocrine evaluation
AMH reference range: 1.22–11.7 ng/ml for 20–24 years, 0.890–9.85 ng/ml for 25–29 years, 0.576–8.13 ng/ml for 30–34 years, 0.147–7.49 ng/ml for 35–39 years. FSH reference range: 3.5–12.5 IU/L for the follicular phase. LH reference range: 2.4–12.6 mIU/mL for the follicular phase. E2 reference range: 12.4–233 pg/ml for the follicular phase. PROG reference range: < 0.05–0.893 ng/ml for the follicular phase. PRL reference range: 4.79–23.3 ng/ml. TESTO reference range:8.4–48.1 ng/dl

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