Persistence of müllerian duct structures in a genetic male with distal monosomy 10q

Mustafa Tosur, Cara Geary, Reuben Matalon, Ravi Radhakrishnan, Leonard E. Swischuk, William F. Tarry, Jianli Dong, Phillip Lee

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Persistent müllerian duct syndrome (PMD) with antimüllerian hormone (AMH) deficiency is usually associated with mutations or deletions of the AMH gene, although many cases have no identified gene association. We report on a genetic male with PMD and AMH deficiency associated with distal monosomy 10q. A term 3,230g infant was born to a healthy 27-year-old. Fetal ultrasound had shown possible genital ambiguity. Postnatal exam showed a 0.5cm phallus with basal meatus, normal scrotum with no palpable gonads, no vaginal orifice, and a rectal fistula with an imperforate anus. Voiding cystourethrogram with ultrasound, cystoscopy, and laparoscopy showed normal bladder, urethral orifice, distal vagina, cervix, and bilateral abdominal testis. At 24 hours of life, testosterone was within normal range with low AMH level. Chromosome microarray analysis showed 46, XY, del10(10q25.3q26.13) involving an 8.2MB interstitial deletion. Whole exome sequencing identified a NOTCH2 variant (1p11.2). AMH sequencing revealed no abnormalities. Following multidisciplinary team and parent discussion, male gender was assigned. Testosterone treatment resulted in penile length of 1.5cm. Bilateral orchiopexy and posterior sagittal anorectoplasty were performed at 11 months of age, rudimentary müllerian structures were identified. This observation suggests an association of 10qter elements with male differentiation including AMH expression and is similar to a patient with 46, XY, del(10q26.1) in which AMH levels were not reported. Regional candidate genes include FGFR2 (10q26.13). The possible contribution of a NOTCH2 variant cannot be excluded.

Original languageEnglish (US)
Pages (from-to)791-796
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number4
DOIs
StatePublished - Apr 1 2015

Fingerprint

Hormones
Testosterone
Rectal Fistula
Imperforate Anus
Orchiopexy
Genes
Exome
Disorders of Sex Development
Cystoscopy
Scrotum
Sequence Deletion
Gonads
Vagina
Microarray Analysis
Monosomy 10q Chromosome 10
Cervix Uteri
Laparoscopy
Testis
Reference Values
Urinary Bladder

Keywords

  • AMH deficiency
  • Distal monosomy 10q
  • Persistent müllerian duct syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Persistence of müllerian duct structures in a genetic male with distal monosomy 10q. / Tosur, Mustafa; Geary, Cara; Matalon, Reuben; Radhakrishnan, Ravi; Swischuk, Leonard E.; Tarry, William F.; Dong, Jianli; Lee, Phillip.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 4, 01.04.2015, p. 791-796.

Research output: Contribution to journalArticle

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