Baseline inhibin B and anti-Mullerian hormone measurements for diagnosis of hypogonadotropic hypogonadism (HH) in boys with delayed puberty.
BACKGROUND
The diagnosis of isolated hypogonadotropic hypogonadism (IHH) in boys with delayed puberty is challenging, as may be the diagnosis of hypogonadotropic hypogonadism (HH) in boys with combined pituitary hormone deficiency (CPHD). Yet, the therapeutic choices for puberty induction depend on accurate diagnosis and may influence future fertility.


OBJECTIVE
The aim was to assess the utility of baseline inhibin B (INHB) and anti-Mullerian hormone (AMH) measurements to discriminate HH from constitutional delay of puberty (CDP). Both hormones are produced by Sertoli cells upon FSH stimulation. Moreover, prepubertal AMH levels are high as a reflection of Sertoli cell integrity.


METHODS
We studied 82 boys aged 14 to 18 yr with pubertal delay: 16 had IHH, 15 congenital HH within CPHD, and 51 CDP, as confirmed by follow-up. Subjects were genital stage 1 (testis volume<3 ml; 9 IHH, 7 CPHD, and 23 CDP) or early stage 2 (testis volume, 3-6 ml; 7 IHH, 8 CPHD, and 28 CDP).


RESULTS
Age and testis volume were similar in the three groups. Compared with CDP subjects, IHH and CPHD subjects had lower INHB, testosterone, FSH, and LH concentrations (P<0.05), whereas AMH concentration was lower only in IHH and CPHD subjects with genital stage 1, likely reflecting a smaller pool of Sertoli cells in profound HH. In IHH and CPHD boys with genital stage 1, sensitivity and specificity were 100% for INHB concentration of 35 pg/ml or less. In IHH and CPHD boys with genital stage 2, sensitivities were 86 and 80%, whereas specificities were 92% and 88%, respectively, for an INHB concentration of 65 pg/ml or less. The performance of testosterone, AMH, FSH, and LH measurements was lower. No combination or ratio of hormones performed better than INHB alone.


CONCLUSIONS
Discrimination of HH from CDP with baseline INHB measurement was excellent in subjects with genital stage 1 and fair in subjects with genital stage 2.
Coutant
Régis
R
Department of Pediatric Endocrinology, Center for Rare Diseases in Hormonal Receptivity, Angers University Hospital, 4 rue Larrey, 49033 Angers CEDEX 01, France. recoutant@chu-angers.fr
Biette-Demeneix
Estelle
E
Bouvattier
Claire
C
Bouhours-Nouet
Natacha
N
Gatelais
Frédérique
F
Dufresne
Sylvie
S
Rouleau
Stéphanie
S
Lahlou
Najiba
N
D000293:Adolescent; D054304:Anti-Mullerian Hormone / Q000097:blood*; D003937:Diagnosis, Differential; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000175:diagnosis*; D007018:Hypopituitarism / Q000097:blood / Q000175:diagnosis*; D007265:Inhibins / Q000097:blood*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D010907:Pituitary Hormones / Q000172:deficiency; D011628:Puberty, Delayed / Q000097:blood*; D013737:Testis / Q000033:anatomy & histology
D010907:Pituitary Hormones; C422364:inhibin B; D007265:Inhibins; D054304:Anti-Mullerian Hormone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone