Anti-Müllerian Hormone: A Valuable Addition to the Toolbox of the Pediatric Endocrinologist

Abstract

Anti-Müllerian hormone (AMH), secreted by immature Sertoli cells, provokes the regression of male fetal Müllerian ducts. FSH stimulates AMH production; during puberty, AMH is downregulated by intratesticular testosterone and meiotic germ cells. In boys, AMH determination is useful in the clinical setting. Serum AMH, which is low in infants with congenital central hypogonadism, increases with FSH treatment. AMH is also low in patients with primary hypogonadism, for instance in Down syndrome, from early postnatal life and in Klinefelter syndrome from midpuberty. In boys with nonpalpable gonads, AMH determination, without the need for a stimulation test, is useful to distinguish between bilaterally abdominal gonads and anorchism. In patients with disorders of sex development (DSD), serum AMH determination helps as a first line test to orientate the etiologic diagnosis: low AMH is indicative of dysgenetic DSD whereas normal AMH is suggestive of androgen synthesis or action defects. Finally, in patients with persistent Müllerian duct syndrome (PMDS), undetectable serum AMH drives the genetic search to mutations in the AMH gene, whereas normal or high AMH is indicative of an end organ defect due to AMH receptor gene defects.

A Rare Cause of a 46,XY Disorders of Sex Development: Persistent Mullerian Duct Syndrome

“…PMKS olgularındaki bu patolojinin, AMH'nın etki gösterememesi veya testislerin müllerian yapı kalın-tılarına yapışık kalmasından dolayı ortaya çıkmış olabileceği ileri sürülmektedir (11,12) . Erkek cinsiyet gelişim bozukluğu olarak tanımla-nan PMKS olgularının %85'lik kısmında AMH veya AMHR2 genlerinde mutasyon saptanabilirken, geri kalan kısmına ise bu genlerde mutasyon saptanmadı-ğı bildirilmektedir (8) . Hangi gende bozukluk olduğu-na dair karar, AMH düzeyine göre verilmektedir.…”

“…Hangi gende bozukluk olduğu-na dair karar, AMH düzeyine göre verilmektedir. Genel olarak AMH düzeyinin çok düşük veya ölçüle-meyecek düzeyde olması AMH gen defektini işaret etmektedir (3,7,8) . Ancak, literatürde AMH geninde mutasyon saptanıp normal AMH düzeyine sahip olgu da bulunmaktadır (13) .…”

“…PMKS hastalarının %85'inden AMH veya AMHR2 mutasyonları sorumlu iken, %15'inde etiyolojik neden saptanamamaktadır (7) . Genetik nedenleri ortaya konulmuş olguların %45'inin AMHR2 mutasyonu olduğu bildirilmektedir (8) . Bu iki durum klasik olarak serum AMH düzeyine göre birbirinden ayrıl-maktadır.…”

Persistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene

“…1 The main role of fetal detected in 85% of patients with PMDS, with the causative genes unidentified in the remaining 15% of cases. Although autosomal recessive, autosomal dominant, and X-linked inheritance patterns have been reported in PMDS, most of the reported cases were isolated.…”

“…5 Since then, more than 200 PMDS cases have been reported in the literature. [1][2][3][4]6 In this case report, we describe the clinical features of a case of PMDS type I with a novel AMH mutation.…”