Congenital gonadotropin deficiency in boys: management during childhood.
OBJECTIVE
To analyze the features of boys with congenital gonadotropin deficiency (CGD), and to determine the value of plasma inhibin B and anti-Müllerian hormone (AMH) for predicting testicular function and the effect of testosterone treatment.


METHODS
We followed 19 boys for CGD, including five with Kallmann syndrome.


RESULTS
The boys were seen before 14 years of age for micropenis (9 boys) or later for delayed puberty (10 boys). No testis was palpable in the scrotum in 13 patients, bilaterally in seven of them. Luteinizing hormone (LH) peak after a gonadotropin releasing hormone (GnRH) test was between 0.5 and 5.6 U/l. Plasma inhibin B was low in the four patients evaluated at less than 1 year old. AMH was low in one of them and normal in four others. Of the older patients, three lad low plasma inhibin B and four had normal concentrations; plasma AMH was low in three of them and increased in four. Testosterone treatment restored penis length to normal in all patients.


CONCLUSIONS
Low plasma inhibin B and AMH concentrations may indicate testicular damage in boys with CGD.
Adan
L
L
Université René Descartes and Pediatric Endocrinology Unit, Fondation-Hópital Saint Joseph, Paris, France.
Couto-Silva
A C
AC
Trivin
C
C
Metz
C
C
Brauner
R
R
D000293:Adolescent; D000328:Adult; D000375:Aging / Q000502:physiology; D054304:Anti-Mullerian Hormone; D002648:Child; D002675:Child, Preschool; D006023:Glycoproteins / Q000097:blood; D006062:Gonadotropins / Q000172:deficiency*; D006128:Growth / Q000187:drug effects; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007265:Inhibins / Q000097:blood; D008297:Male; D010413:Penis / Q000254:growth & development; D011237:Predictive Value of Tests; D011379:Prognosis; D011627:Puberty / Q000502:physiology; D013735:Testicular Hormones / Q000097:blood; D013737:Testis / Q000502:physiology; D013739:Testosterone / Q000627:therapeutic use
D006023:Glycoproteins; D006062:Gonadotropins; D013735:Testicular Hormones; C422364:inhibin B; D013739:Testosterone; D007265:Inhibins; D054304:Anti-Mullerian Hormone