|Year : 2014 | Volume
| Issue : 1 | Page : 58-60
Persistant Mullerian duct syndrome: A case report of a rare disorder of sex development
Santosh B Kurbet1, N.S. Mahantshetti2, M.V. Patil2, G.P. Prashanth2, R.M. Wali2, S.A. Patil2
1 Department of Paediatric Surgery, KLE University's J.N. Medical College, Belgaum, Karnataka, India
2 Department of Paediatrics, KLE University's J.N. Medical College, Belgaum, Karnataka, India
|Date of Web Publication||2-Jul-2014|
Santosh B Kurbet
Department of Paediatric Surgery, KLE University's J.N. Medical College, Belgaum, Karnataka
Source of Support: None, Conflict of Interest: None
Disorders of sex development (DSD) are congenital abnormalities of sexual differentiation resulting from disparity in the chromosomal, gonadal and phenotypic sex. Most of these children present with ambiguous genitalia, but can also present with hernias or undescended testis as in persistent Mullerian duct syndrome (PMDS). The social stigma attached with this disorder makes it imperative for expeditious evaluation and appropriate assignment of sex in our scenario. We report here successful management of such a case and review the literature. In conclusion, a rare case of DSD like PMDS requires a high index of suspicion and can be managed successfully.
Keywords: Disorders of sex development, intersex, persistent Mullerian duct syndrome
|How to cite this article:|
Kurbet SB, Mahantshetti N, Patil M, Prashanth G, Wali R, Patil S. Persistant Mullerian duct syndrome: A case report of a rare disorder of sex development. Indian J Health Sci Biomed Res 2014;7:58-60
|How to cite this URL:|
Kurbet SB, Mahantshetti N, Patil M, Prashanth G, Wali R, Patil S. Persistant Mullerian duct syndrome: A case report of a rare disorder of sex development. Indian J Health Sci Biomed Res [serial online] 2014 [cited 2019 Jul 17];7:58-60. Available from: http://www.ijournalhs.org/text.asp?2014/7/1/58/135080
| Introduction|| |
Disorders of sex development (DSD) also called intersex disorders are one of the complex disease processes. Significant insights in the science of DSDs have been made so far, but the management of the DSDs is not completely clear. In our scenario with huge social stigma, male gender bias, and acceptance of infertile male, expeditious evaluation and early assignment of sex is important. Cases like persistent Mullerian duct syndrome (PMDS) are rare and need high index of suspicion, appropriate investigation and management.
These DSDs are social emergencies and dealt with a complete evaluation, education, thorough counseling and appropriate assignment of sex.
| Case Report|| |
A 1½-year-old toddler presented with bilateral empty scrotum since birth to the outpatient department. There was no history of major illness in the past, nor family history of earlier still births, early deaths in siblings, ambiguous genitalia, and unusual course at puberty or family history of infertility. History about medication during pregnancy, treatment for recurrent abortions, steroids and contraception was negative. The child was reared as a male. On examination, there was no dysmorphism, malformation syndrome or abnormal hyperpigmentation and genital examination revealed normal sized phallus, rugous and normally pigmented symmetrical well developed scrotum with no palpable gonad within, nor in the inguinal region [Figure 1]. Per-rectal examination did not reveal any cervical impression. Ultrasound showed bilaterally undescended gonads of smaller size near the deep inguinal ring. The diagnosis of bilateral impalpable undescended testes was made and was planned for diagnostic laparoscopy. After extensive counseling about the DSD, infertility, potential for malignancy in the gonads later and possible intra-operative findings of DSD, anorchia, dysgenetic testes, high testes, nubbin testes, etc., the child underwent laparoscopy, which showed diminutive Mullerian structures and small bilateral testes [Figure 2] and orchiopexy was done after bisection of the uterus with preservation of vas deferens just lying beside the uterus. The postoperative period was uneventful and the child is doing well at regular follow-up.
|Figure 1: Genital appearance showing normal phallus and B/L undescended testes|
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|Figure 2: Laparoscopy showing persistent Mullerian structures and testes|
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| Discussion|| |
Disorders of sex development are uncommon, but not rare disorders. DSDs are a result of aberrations in balance of hormonal mileau, metabolic causes and chromosomal abnormalities. , Intersex disorders, transgenders, hermaphrodites, intersexuality and recently divergence or variations or disorders of sex differentiation are other terminologies used for DSDs. About 2% of live births do have mild undervirilization in males or masculization in females.  PMDS,46 XY DSD is an uncommon DSD, presenting with hernia or undescended testes. 
The sex of the child is determined by a series of molecular events that direct the undifferentiated gonad to turn into a testis or an ovary during gestation leading to the formation of a complete male or a female. Ambiguity of the external genitalia results either from masculinization of normal female or an arrest of the process of virilization in a male. Alfred Jost experiments concluded phasic occurrence of establishment of chromosomal sex at fertilization, formation of undifferentiated gonads, then gonadal differentiation, and finally development of internal and external genitalia. Therefore, sex differentiation is a complex process and timely interaction between genes, proteins, signaling molecules, paracrine, and endocrine factors. PMDS are autosomal recessive disorders, which occur as a result of mutation in gene of Mullerian inhibiting substance/antimullerian hormone (MIS/AMH) or a defect in putative receptor for MIS.  The failure of regression of Mullerian structures in certain genetically 46XY males due to inaction of MIS/AMH leads to PMDS. PMDS present with either bilateral undescended testes (60-70%), inguinal hernia (20-30%) or rarely with transverse testicular ectopia (10%). To understand DSDs is to appreciate the events that lead to sexual differentiation. DSDs were classified earlier as male pseudohermaphrodites, female pseudohermaphrodites, true hermaphrodites and chromosomal disorders. Lately, DSDs, are classified as 46, XX ovarian DSD, 46, XY DSD, 45, X/46, XY DSD, 46, XX testicular DSD and 46, XY complete gonadal dysgenesis. The external genital appearance and time of presentation are variable in each case. DSD is suspected in a female child with clitoral hypertrophy, fused labia, single genitourinary opening, hyperpigmentation, palpable gonad and inguinal hernia, and in a male child with impalpable testes, micropenis, severe hypospadias, and any degree of hypospadias with undescended testis or if external genitalia are overtly ambiguous.
The management of DSDs in our scenario is dictated by male gender bias, acceptance of an infertile male rather than female, demand of expeditious management and a poor follow-up. A multidisciplinary approach but individualization of each case involving the obstetrician, neonatologist, pediatric surgeon, pediatric endocrinologist, geneticist, psychologist and a social worker is followed. There is general disagreement for delaying surgery until adulthood in 67% of these children and parents even in developed countries.  The cases of salt losing 46XX DSD (congenital adrenal hyperplasia) are life threatening and need prompt diagnosis and steroid supplementation. , Investigations include karyotyping, genetic probe studies, hormone levels of gonadotropins, 17-hydroxyprogesterone, testosterone, dihydrotestosterone, Mullerian inhibiting substance, estradiol, human chorionic gonadotropin, and adrenocorticotropic hormone stimulation tests. Ultrasound is used to look for inguinal gonads, internal ducts, renal anomalies, adrenals and laterality of the structures.  Magnetic resonance imaging is being used frequently in DSDs with better multiplanar imaging, improved tissue characterization, with testes showing T1 intensity signals, low intensity stripes in T2 in streak gonads, and high intensity focus in neoplasia.  Fluoroscopy and genitoscopic imaging used to look for Mullerian structures and its confluence at urethra are important with surgical point of view. Laparoscopy is done to evaluate gonads, Mullerian structures and biopsy or remove in suspected dysgenesis, look for streak gonads, evaluate true hermaphrodites and for orchiopexy. Skin cultures are done to look for cell lines; androgen receptors, 5 α-reductase and gene studies, fluoroscent in situ hybridization to determine specific gene mutation anomalies and polymerase chain reaction-DNA studies. Reconstructive surgeries are either masculinizing genitoplasty (hypospadias repair, phalloplasty, orchiopexy, excision of Mullerian structures and scrotoplasty) or feminizing genitoplasty (clitoral reduction, recession, excision, labioplasty and monsplasty).  46XY-DSD (PMDS) are invariably assigned male sex with orchiopexies.  Cases of 5 α-reductase, partial androgen insensitivity syndrome and 17-hydroxysteroid dehydrogenase deficiency are better assigned male sex as masculinization is known to occur in these patients at puberty. Gender dyphoria and poor satisfaction is common after assignment of sex in DSDs. In summary the management of DSDs depends on (Meyer-Bahlburg Criteria); potential for reproduction, potential of malignancy, wishes of the patient and parents, minimal medical procedures, good sexual function, ability to provide gender appropriate appearance, stable gender identity and psychosocial well-being. It is incorrect to delay assignment of sex and surgery, but lately, gender assignment is being challenged on the basis of medical and ethical concerns. ,, with delay in assignment of sex to allow the growth of the child and have self-reported gender identity and gender orientation. , However, there are sparse long-term prospective studies in DSDs with respect to evaluation, management and follow-up.
In summary management of DSDs is a great challenge in our subset of population and requires expeditious workup, proper thorough counseling and appropriate assignment of sex. Early correct and complete diagnosis of DSD will provide the patient and family with a better understanding and leads to improved satisfaction with the treatment. All DSDs are not medical emergencies but are definitely social emergencies; hence require dedicated, methodical approach and management.
| References|| |
|1.||Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP. Review and management of 46, XY disorders of sex development. J Pediatr Urol 2013;9:368-79. |
|2.||Jaruratanasirikul S, Engchaun V. Management of children with disorders of sex development: 20-year experience in southern Thailand. World J Pediatr 2014;10:168-74. |
|3.||Kulkarni KP, Panigrahi I, Das R, Kaur S, Marwaha RK. Pediatric disorders of sex development. Indian J Pediatr 2009;76:956-8. |
|4.||Hutson JM, Davidson PM, Reece LA, Baker ML, Zhou BY. Failure of gubernacular development in the Persistent Mullerian Duct syndrome allows herniation of he testes. Paediatr Surg Int 1994;9:544-6. |
|5.||Sharma S, Gupta DK. Gender assignment and hormonal treatment for disorders of sexual differentiation. Pediatr Surg Int 2008;24:1131-5. |
|6.||Romao RL, Salle P, Wherret DK. Update on management of sex development. Pediatr Clin North Am 2012;59:853-69. |
|7.||Chavhan GB, Parra DA, Oudjhane K, Miller SF, Babyn PS, Pippi Salle FL. Imaging of ambiguous genitalia: Classification and diagnostic approach. Radiographics 2008;28:1891-904. |
[Figure 1], [Figure 2]