title: Etiological diagnosis of undervirilized male/XY disorder of sex development.
abstract: OBJECTIVE
  To do clinical, hormonal and chromosomal analysis in undervirilized male / XY disorder of sex development and to make presumptive etiological diagnosis according to the new Disorder of Sex Development (DSD) classification system.
  
  
  METHODS
  Case series.
  
  
  METHODS
  Endocrine Unit at National Institute of Child Health, Karachi, Pakistan, from January 2007 to December 2012.
  
  
  METHODS
  Patients of suspected XY DSD / undervirilized male visiting endocrine clinic were enrolled in the study. Criteria suggested XY DSD include overt genital ambiguity, apparent female/male genitalia with inguinal/labial mass, apparent male genitalia with unilateral or bilateral non-palpable testes, micropenis and isolated hypospadias or with undescended testis. The older children who had delayed puberty were also evaluated with respect to DSD. As a part of evaluation of XY DSD, abdominopelvic ultrasound, karyotype, hormone measurement (testosterone, FSH, LH), FISH analysis with SRY probing, genitogram, laparoscopy, gonadal biopsy and HCG stimulation test were performed. Frequencies and percentages applied on categorical data whereas mean, median, standard deviation were calculated for continuous data.
  
  
  RESULTS
  A total of 187 patients met the criteria of XY DSD. Age ranged from 1 month to 15 years, 55 (29.4%) presented in infancy, 104 (55.6%) between 1 and 10 years and 28 (15%) older than 10 years. Twenty five (13.4%) were raised as female and 162 as (86.6%) male. The main complaints were ambiguous genitalia, unilateral cryptorchidism, bilateral cryptorchidism, micropenis, delayed puberty, hypospadias, female like genitalia with gonads, inguinal mass. The karyotype was 46 XY in 183 (97.9%), 46 XX in 2 (1.1%), 47 XXY in 1 (0.5%), 45 X/46 XY in 1 (0.5%) patient. HCG stimulation test showed low testosterone response in 43 (23 %), high testosterone response in 62 (33.2%), partial testosterone response in 32 (17.1%) and normal testosterone response in 50 (26.7%). Genitogram was carried out in 86 (45.98%) patients. Presumptive etiological diagnosis of androgen sensitivity syndrome/ 5-alpha reductase deficiency, testicular biosynthetic defect/ leydig cell hypoplasia, partial gonadal dysgenesis, ovotesticular DSD, XX testicular DSD, mixed gonadal dysgenesis, testicular vanishing syndrome, klinefelter syndrome, hypogonadotropic hypogonadism, isolated hypospadias and isolated micropenis was made.
  
  
  CONCLUSIONS
  Clinical, chromosomal and hormonal assessment may help in making the presumptive etiological diagnosis. Further molecular genetics analysis are needed in differentiating these abnormalities and to make a final diagnosis.
authors.affiliation: Department of Paediatric Medicine, Unit II, National Institute of Child Health. Karachi.
authors.forename: Irum
authors.initials: I
authors.lastname: Atta
authors.affiliation: Department of Paediatric Medicine, Unit II, National Institute of Child Health. Karachi.
authors.forename: Mohsina
authors.initials: M
authors.lastname: Ibrahim
authors.affiliation: Department of Paediatric Medicine, Unit II, National Institute of Child Health. Karachi.
authors.forename: Arit
authors.initials: A
authors.lastname: Parkash
authors.affiliation: Department of Paediatric Medicine, Unit II, National Institute of Child Health. Karachi.
authors.forename: Saira Waqar
authors.initials: SW
authors.lastname: Lone
authors.affiliation: Department of Paediatric Medicine, Unit II, National Institute of Child Health. Karachi.
authors.forename: Yasir Naqi
authors.initials: YN
authors.lastname: Khan
authors.affiliation: Department of Paediatric Medicine, Unit II, National Institute of Child Health. Karachi.
authors.forename: Jamal
authors.initials: J
authors.lastname: Raza
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis / Q000209:etiology*; D012734:Disorders of Sex Development / Q000145:classification* / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis / Q000209:etiology*; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000209:etiology; D008297:Male; D010154:Pakistan; D046468:Sexual Development / Q000502:physiology*; D043202:Steroid Metabolism, Inborn Errors / Q000175:diagnosis / Q000209:etiology*; D013737:Testis / Q000002:abnormalities; D013739:Testosterone
chemical_list: D013739:Testosterone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase