With regards to phenotypic presentation, 44(42%) subjects had male phenotype, while 17(16%) had typical female presentation, and 43(41%) had ambiguous genitalia
. Also, 27(26%) subjects presented with gynecomastia, 92(88.5%) with micropenis, 71(68%) with undescended testes, and 7(6.7%) presented with hypospadias.
The incidence of ambiguous genitalia
varies between developed and developing countries and is substantially related with frequency of consanguineous marriages in a population.3 Studies conducted in populations with high rate of consanguinity revealed the increased incidence of ambiguous genitalia
Male to female ratio in the study was 28:23, there were two children with indeterminate sex due to ambiguous genitalia
. One was a virilised female and the other was an un virilised male.
Patients and Methods: A total of 363 patients, whose ages were between newborn to 38 years, were referred to Cytogenetics Department of Public Health Laboratories Division in the National Institute of Health, Islamabad during January 2011 to December 2016 (six years) with complaints of Down syndrome, Turner's syndrome, ambiguous genitalia
and primary/ secondary amenorrhea.
We identified a novel mutation in the CYP19A1 gene in a patient who presented with ambiguous genitalia
and maternal virilization during pregnancy.
Due to excess androgens there may be precocious puberty or failure of puberty to occur (sexual infantilism: absent or delayed puberty); ambiguous genitalia
, in some females, such that it can be initially difficult to identify external genitalia as 'male' or 'female'; early pubic hair and rapid growth in childhood; excessive facial hair, virilization and/or menstrual irregularity in adolescence; infertility due to anovulation; functional and average sized penis in cases involving extreme virilization (but no sperm), enlarged clitoris and shallow vagina; and pigmentation (due to raised ACTH with lack of cortisol).
Criteria suggesting DSD included ambiguous genitalia
Shah, Ambiguous genitalia
in a newborn with spironolactone exposure.
Complications in males often include hypospadias, ambiguous genitalia
, and infertility.
They occur in association with sex chromosome disorders and ambiguous genitalia
. Alpha-fetoprotein levels have a poor diagnostic value for teratomas in infants <6 months of age.
Cortisol deficiency and over-production of androgens can lead to increased mortality, infertility and severe development defects, including ambiguous genitalia
, precocious puberty and short stature.
A term female infant born at 39 weeks by repeat caesarean section to a 31-year-old gravida 3, para 3 mother after uncomplicated pregnancy was transferred to our Neonatal Intensive Care Unit (NICU) at approximately forty-eight hours of life due to history of no urine output, ambiguous genitalia
, and imperforate anus.
The person was assigned male at birth despite having ambiguous genitalia
and realized during puberty that they didn't feel right with the classification.
Regarding the patients, there were 73 (47.4%) females, 72 (46.7%) males and 9 (5.8%) with ambiguous genitalia
The NYC Commission says that gender identity is "one's internal deeply held sense of one's gender which may be the same or different from one's sex assigned at birth." (2) Leaving aside the false assertion that, except in cases of ambiguous genitalia
, anatomical sex is "assigned" at birth, the fact that one's beliefs are "deeply held" does not make them any more correct or closer to objective reality than if they were held but lightly.