• PMID: 17020655
• Gene Name: AMH
• Condition: Testicular function, sexual differentiation disorders, gonadal dysgenesis, partial androgen insensitivity, scrotal hypospadiasis,
• Association: AMH level was not impaired in patients with unilateral cryptorchidism and partial androgen insensitivity (median 350 pmol/l). AMH was normal in most of boys with scrotal hypospadiasis
• Population size: 79
• Population details: 79 (23 gonadal dysgenesis, 4 PAIS, 16 scrotal hypospadiasis, 20 bilateral cryptorchidism, 10 anorchia, 6 unilateral cryptorchidism)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Testicular function, sexual differentiation disorders, gonadal dysgenesis, partial androgen insensitivity, scrotal hypospadiasis,

[Anti-Müllerian hormone (AMH) measurements in the assessment of testicular function in prepubertal boys and in sexual differentiation disorders]

Szarras-Czapnik M, Gajewska M, Ksiazyk J, Janas R, Ginalska-Malinowska M.

In males AMH is produced by the testes from fetal life to puberty. The main role of AMH in the male fetus is to cause Müllerian duct regression, in prepubertal boys AMH is involved in testicular development and function. THE AIM OF THIS STUDY was to assess the use of a sensitive assay kit of AMH measurements in the diagnosis and management of children with abnormal sexual differentiation and cryptorchidism. We also compared the serum AMH levels with testosterone levels after hCG stimulation. METHODS: We assessed serum AMH levels in 79 prepubertal patients: gonadal dysgenesis (n=23), partial androgen insensitivity (n=4), scrotal hypospadiasis (n=16), bilateral cryptorchidism (n=20), anorchia (n=10) and unilateral cryptorchidism (n=6). Earlier hCG test was performed (one dose of 2000 IU/m2 i.m.) and testosterone levels were determined. RESULTS: AMH level was not impaired in patients with unilateral cryptorchidism and partial androgen insensitivity (median 350 pmol/l). AMH was normal in most of boys with scrotal hypospadiasis (median 317 pmol/l). Significant differences were observed between AMH levels in boys with hypospadias and patients with gonadal dysgenesis (median 174 pmol/l; p<0,001). In the cryptorchid group AMH level was normal in 50% of boys. There was a significant difference between AMH levels in cryptorchid boys (median 249.5 pmol/l) and patients with anorchia; (p<0,001). AMH levels were almost undetectable in boys with vanishing testes (median 1.0 pmol/l). The basal AMH levels were correlated with testosterone response to hCG. CONCLUSIONS: When testes are non-palpable a single measurement of serum AMH level can distinguish between cryptorchidism and anorchia. AMH determination can help in the diagnosis of intersex conditions. Our data demonstrated that basal AMH measurements correlate with testosterone response to hCG. Serum AMH concentration in prepubertal children is a marker of testicular function. Preoperative measurement of AMH can be useful in the management of children with cryptorchidism and intersex disorders. FAU - Szarras-Czapnik, Maria AU - Szarras-Czapnik M AD - Klinika Pediatrii, Oddział Endokrynologii Instytutu "Pomnik--Centrum Zdrowia Dziecka" w Warszawie, Warszawa. mszarras@pharmanet.com.pl FAU - Gajewska, Marzena AU - Gajewska M FAU - Ksiazyk, Janusz AU - Ksiazyk J FAU - Janas, Roman AU - Janas R