Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation
Journal Title: Journal of Clinical Research in Pediatric Endocrinology - Year 2017, Vol 9, Issue 2
Abstract
Persistent Müllerian duct syndrome is the result of either anti-Müllerian hormone (AMH) deficiency or AMH receptor resistance. A long tubular structure was palpated during the physical examination of a 13-month-old male patient who had presented with bilateral undescended testes. At physical examination, the testes were not palpable. The patient’s karyotype was XY, SRY (+), and his AMH level was 22 ng/mol. Structures suggestive of ovaries, a uterus, and fallopian tubes were observed during the laparoscopic examination of the ectopic testis. AMHR2 gene sequence analysis performed with a preliminary diagnosis of AMH receptor resistance revealed a previously unreported homozygous c.24G>A (p.W8X) mutation. The patient was assessed as a case of AMH receptor resistance. Orchiopexy was performed.
Authors and Affiliations
Özlem Korkmaz, Samim Özen, Nurhan Özcan, Petek Bayındır, Sait Şen, Hüseyin Onay, Damla Gökşen, Ali Avanoğlu, Ferda Özkınay, Şükran Darcan
Keywords
Related Articles
- EP ID EP240477
- DOI 10.4274/jcrpe.4058
- Views 167
- Downloads 0
Treatment of Pre-pubertal Patients with Growth Hormone Deficiency: Patterns in Growth Hormone Dosage and Insulin-like Growth Factor-I Z-scores
Objective: To describe the range of insulin-like growth factor-I (IGF-I) z-score values (IGF-Iz) and growth hormone (GH) dose adjustments in pre-pubertal patients with GH deficiency (GHD) treated with GH in a single tert...
Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency
Objective: Classic congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency is characterized by increased prenatal adrenal androgen secretion. There are a small number of reports in the literature show...
The Association Between Maternal Subclinical Hypothyroidism and Growth, Development, and Childhood Intelligence: A Meta-analysis
Objective: To explore the association between maternal subclinical hypothyroidism (SCH) in pregnancy and the somatic and intellectual development of their offspring. Methods: Using RevMan 5.3 software, a meta-analysis o...
Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life
Objective: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. Methods: Data were collected from case records of subjects attending...
Optimal Cut-off Points of Fasting and Post-Glucose Stimulus Surrogates of Insulin Resistance as Predictors of Metabolic Syndrome in Adolescents According to Several Definitions
Objective: The aim of this study was to determine optimal cut-off points for fasting and post-glucose stimulus surrogates of insulin resistance to predict metabolic syndrome in adolescents according to several definition...