[A baby boy with cryptorchism, inguinal hernia and internal female genitalia: the persistent Mullerian duct syndrome]

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Title:	[A baby boy with cryptorchism, inguinal hernia and internal female genitalia: the persistent Mullerian duct syndrome]
Author(s):	Halbertsma, F.J. ; Otten, B.J. ; Wijnen, R.M.H. ; Feitz, W.F.J.
Publication year:	2004
Source:	Nederlands Tijdschrift voor Geneeskunde, vol. 148, iss. 10, (2004), pp. 484-487
ISSN:	0028-2162
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/59020
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Subject:	UMCN 2.1: Heart, lung and circulation UMCN 4.1: Microbial pathogenesis and host defense UMCN 4.3: Tissue engineering and reconstructive surgery UMCN 5.2: Endocrinology and reproduction
Organization:	Intensive Care Paediatrics - OUD tm 2017 Surgery Urology
Journal title:	Nederlands Tijdschrift voor Geneeskunde
Volume:	vol. 148
Issue:	iss. 10
Page start:	p. 484
Page end:	p. 487
Abstract:	During operation for a right inguinal hernia, a baby boy aged 3 months was discovered to have internal female genitalia. Biopsies were taken from the gonads and blood was sent for karyotyping. The biopsies showed normal testicular tissue and the karyotyping result was 46XY, so the diagnosis of persistent Mullerian duct syndrome (PMDS) was made. Recovery was uneventful. At the age of 2 he underwent bilateral orchidopexy. PMDS is a rare disorder of the MIF synthesis or receptor. Patients present with cryptorchism, inguinal herniation of Mullerian structures, or problems related to the abnormal urinary tract, such as infection or stone formation. In cryptorchism, orchidopexy and life-long palpatory follow-up are advised. If urological symptoms occur, surgical removal of the Mullerian remnants may be considered. The prognosis for fertility is poor.