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 Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 3  |  Issue : 4  |  Page : 223-225

Hematometrocolpos and ambiguous genitalia in an Indian girl with axial mesodermal dysplasia spectrum


1 Department of Pediatrics, Division of Genetics and Metabolism, Maulana Azad Medical College, New Delhi, India
2 Department of Pediatric Surgery, Maulana Azad Medical College, New Delhi, India

Date of Web Publication14-Nov-2014

Correspondence Address:
Seema Kapoor
Department of Pediatrics, Division of Genetics and Metabolism, Maulana Azad Medical College, New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2249-4847.144756

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  Abstract 

Axial mesodermal dysplasia spectrum (AMDS) is a developmental defect characterized by features of both caudal regression syndrome and oculo-auriculo-vertebral spectrum. This spectrum of anomalies is probably due to a generalized alteration in mesodermal cell migration during the primitive streak period. We report a female newborn with features of the axial mesodermal dysplasia complex presenting with ambiguous genitalia and hematometrocolpos requiring surgical intervention. The present case highlights the clinical spectrum with rare genital features (ambiguous genitalia and hematometrocolpos) in a patient with AMDS from India. To the best of our knowledge, this is the first case of AMDS with such an unusual presentation.

Keywords: Ambiguous genitalia, hematometrocolpos, oculo-auriculo-vertebral spectrum


How to cite this article:
Goyal M, Garg A, Ratan SK, Kapoor S. Hematometrocolpos and ambiguous genitalia in an Indian girl with axial mesodermal dysplasia spectrum. J Clin Neonatol 2014;3:223-5

How to cite this URL:
Goyal M, Garg A, Ratan SK, Kapoor S. Hematometrocolpos and ambiguous genitalia in an Indian girl with axial mesodermal dysplasia spectrum. J Clin Neonatol [serial online] 2014 [cited 2020 Sep 30];3:223-5. Available from: http://www.jcnonweb.com/text.asp?2014/3/4/223/144756


  Introduction Top


Axial mesodermal dysplasia spectrum (AMDS) is a developmental defect characterized by signs of caudal regression syndrome and features of the oculo-auriculo-vertebral spectrum (OAVS). This disorder includes features of OAVS such as epibulbar dermoids, asymmetric face and preauricular tags, lesions of the urogenital tract and distal gut. The spectrum of anomalies is due to a generalized alteration in mesodermal cell migration during the primitive streak period. [1],[2] Previous case reports have reiterated its varied presentation. We describe a newborn with dysmorphic features such as mid-face hypoplasia, epibulbar dermoid, bilateral low set ears, and narrow external auditory canal with right auricular and preauricular tags, vertebral anomalies as well as ambiguous genitalia and hematometrocolpos. The present case highlights the clinical spectrum with rare genital features (ambiguous genitalia and hematometrocolpos) in a patient with AMDS from India. To the best of our knowledge, this finding has not been reported previously with AMDS.


  Case REPORT Top


A 10-day-old female neonate was brought to us for evaluation of ambiguous genitalia. She is first born of the nonconsanguineous couple delivered at term by lower segment cesarean section. Antenatal and perinatal period were uneventful. There was no history of diabetes, drug intake or exposure to radiation during the first trimester of pregnancy. Three-generation pedigree was unremarkable. On examination, weight, length, and head circumference were 2740 g, 52 cm, and 35 cm, respectively that were between 0 and 1 standard deviation for age. Facial features showed prominent forehead, hypertelorism, epibulbar dermoid, mid-face hypoplasia, facial asymmetry; bilateral low set small ears, narrow external auditory canal with right auricular and preauricular tags, short neck, and loose skin of the neck [Figure 1]. Genital examination revealed developed labia majora with huge swelling originating from mons (resembling scrotum), perineal urethra and an anteriorly placed anal opening [Figure 2]a and b. There was no vaginal opening and testes were not palpable. Systemic examination was normal. Ultrasonography (USG) abdomen suggested a well-defined cystic area of size 6 cm × 2.5 cm × 3.2 cm in the mid-line posterior to bladder with the possibility of bicornuate uterus with hematocolpos or hydrocolpos. Magnetic resonance imaging pelvis showed prominent uterus measuring about 35.9 mm × 12 mm deviated to left of the bladder with a thin fluid lined endometrial cavity and absent ovaries. The external genitalia was seen as a clump of soft tissue in labia making its deciphering difficult. Skeletal survey revealed nonvisualization of anterior arch of C1 vertebra, segmentation defects of 3 rd and 4 th lumbar vertebra, rib anomalies, and partial sacral agenesis [Figure 3]a and b. BERA test showed moderate to severe hearing loss. Echocardiography suggested a small patent ductus arteriosus. Cranial and renal USG were normal. Seventeen-hydroxyprogesterone levels were normal. Karyotype by GTG staining revealed 46XX. Child was referred to pediatric surgery for management of ambiguous genitalia. Evaluation has been done and she was planned for exploratory laparotomy. Exploration of the abdomen revealed enlarged vagina filled with secretions, flaccid and elongated bladder filled with urine, uterus lying posterior to bladder, two healthy ovaries and nondilated ureters. Vaginostomy and colostomy were done. Child remained stable postoperatively and has been in our follow-up.
Figure 1 : Patient at 10 days -note facial asymmetry, low set small ear, right auricular tag, short neck and loose skin in neck

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Figure 2: (a) Malformed labia majora with scrotum like swelling, (b) anterior placed and atretic anal opening

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Figure 3: (a) Anterior view of X-ray spine showing segmentation defects of 3rd and 4th lumbar vertebra, rib anomalies, and sacral agenesis, (b) lateral view of X-ray spine showing vertebral defect and sacral agenesis

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  Discussion Top


The term AMDS includes features both of OAVS and caudal regression. It has been postulated that these findings are due to defects of blastogenesis, which originate in the primary developmental field or the progenitor fields, thus representing polytopic field defects. [3],[4] affecting widely separated parts of the body and occurring in nonrandom associations may be related in their pathogenesis, and perhaps cause, as disturbances of paraxial mesoderm. [5]

Axial mesodermal dysplasia spectrum is characterized by craniofacial abnormalities (asymmetrical face, epibulbar dermoids, auricular tags, malformed ears), skeletal changes (abnormal or absent sacrum, fusion of vertebra, or hemivertebra, bifid/fused/absent ribs), cardiac findings (dextrocardia, ventricular septal defect), renal dysplasia or agenesis, anal atresia or stenosis, genital anomalies (cryptorchid/absent testis, overriding scrotum, small penis, and malformed uterus), bladder exstrophy, omphalocele, shortening of lower limbs and central nervous system anomalies such as hydrocephalus and dandy-walker malformation. [6]

AMDS was first described by Russell et al. in an infant with lesion of caudal vertebral column and features of Goldenhar syndrome (epibulbar dermoid, preauricular tags) with heart defect, hydrocephalus and a webbed neck. [5] Our patient also had a small patent ductus arteriosus. Cardiac defect such as transposition of the great arteries and an atrioventricular septal defect has been described by Dinleyici et al. They reported an infant born to a mother with type 1 diabetes with the phenotype of AMDS as well as severe congenital cardiac anomalies. [7] Haldar et al. have reported a stillborn infant with facial features of hemifacial microsomia, hydrocephalus, a diaphragmatic hernia, bilobed lungs, a single kidney, bicornuate uterus and associated features of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) syndrome. [8] Bergmann et al. reported a case with overlapping between VACTERL association, hemifacial microsomia and axial mesodermal dysplasia. [9]

We found craniofacial features and skeletal changes suggestive of AMDS in our case along with ambiguous genitalia and hematometrocolpos. A polytopic field defect is likely to occur, but this disorder seems to be amenable to prenatal diagnosis. A similar case detected antenataly has been reported by Tonni et al. where the fetuses' had OEIS complex and ambiguous genitalia. The group also suggested that color Doppler had proved to aid the diagnosis of bladder exstrophy by depicting the urine flow in direct communication with the abdominal cavity and was useful in showing the course of the perivesical umbilical arteries. [10] Other causes of ambiguous genitalia such as congenital adrenal hyperplasia, XY gonadal dysgenesis have been described in the literature. The presence of associated facial dysmorphology and skeletal involvement clinches the diagnosis.

To the best of our knowledge, this is the first clinical report of an AMDS case in association with these atypical features. Genetic factors have been shown to be important, but their precise nature is not clear. Although most cases have been reported sporadic, Mota et al. described a female AMDC born to a consanguineous couple. [11] Treatment is mainly symptomatic of associated anomalies such as cardiac, urinary, genital, skeletal, or gastrointestinal. These complications require early surgical management and are given preference. Assigning a correct sex of rearing is crucial to the management of these children as this has a long lasting effect on the social milieu. A technique such as fluorescent in situ hybridization can give the results in 2-3 days while a karyotype would take 7-10 days. The mainstay of management is surgical both for functional and cosmetic reasons. Counseling is important if a genetic etiology is identified. Given the fact that genetic and environmental causes may produce a similar phenotype, it is very difficult to differentiate between syndrome and association and makes counseling for recurrence risk challenging.

 
  References Top

1.Stewart FJ, Nevin NC, Brown S. Axial mesodermal dysplasia spectrum. Am J Med Genet 1993;45:426-9.  Back to cited text no. 1
    
2.Martínez-Frías ML, Gomar JL. New case of axial mesodermal dysplasia sequence: Epidemiologic evidence of a single entity. Am J Med Genet 1994;49:74-6.  Back to cited text no. 2
    
3.Opitz JM. Blastogenesis and the "primary field" in human development. Birth Defects Orig Artic Ser 1993;29:3-37.  Back to cited text no. 3
    
4.Bohring A, Lewin SO, Reynolds JF, Voigtländer T, Rittinger O, Carey JC, et al. Polytopic anomalies with agenesis of the lower vertebral column. Am J Med Genet 1999;87:99-114.  Back to cited text no. 4
    
5.Russell LJ, Weaver DD, Bull MJ. The axial mesodermal dysplasia spectrum. Pediatrics 1981;67:176-82.  Back to cited text no. 5
    
6.Bini R, Danti DA, Materassi M, Pela I. Report of a new case of axial mesodermal dysplasia complex. Clin Genet 1996;50:407-10.  Back to cited text no. 6
    
7.Dinleyici EC, Tekin N, Dinleyici M, Kilic Z, Adapinar B, Aksit MA. Severe fatal course of axial mesodermal dysplasia spectrum associated with complex cardiac defect in an infant of a mother with insulin dependent diabetes. Am J Med Genet A 2007;143A: 2156-9.  Back to cited text no. 7
    
8.Haldar A, Sharma AK, Phadke SR, Jain A, Agarwal SS. OEIS complex with craniofacial anomalies - Defect of blastogenesis? Am J Med Genet 1994;53:21-3.  Back to cited text no. 8
    
9.Bergmann C, Zerres K, Peschgens T, Senderek J, Hörnchen H, Rudnik-Schöneborn S. Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC). Am J Med Genet A 2003;121A: 151-5.  Back to cited text no. 9
    
10.Tonni G, Grisolia G, Bonasoni M, Panteghini M, Vito I, De Felice C. Prenatal diagnosis of OEIS omphalocele, bladder exstrophy, imperforate anus, clubfeet variant associated with increased nuchal translucency and OEIS complex with ambiguous genitalia associated with corrected transposition of the great arteries: Case series and review of the literature. Arch Gynecol Obstet 2011;284:261-9.  Back to cited text no. 10
    
11.Mota CR, Azevedo M, Rocha G, Manuela F, Coelho R, Lima MR. Axial mesodermal dysplasia complex: A new case with parental consanguinity. Clin Dysmorphol 2000;9:73-5.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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