Biggest Assignment as a Parent- Raising a child with Genital Ambiguity
The decision to have a baby is the first step in a lifelong commitment of love, time, and financial resources and dealing with a baby with sexual ambiguity is devastating and painful .
Sexual ambiguity is a complex issue. An accurate diagnosis is essential and may take some time. Sex of assignment must be based not only on the underlying diagnosis and karyotype but also on the potential for adult sexual function, fertility, and psychological health. For these reasons, input from several specialties, including endocrinology, genetics, neonatology, psychology, urology, and an ethicist, is important. All members of the team must communicate adequately with each other. Parents must fully understand the medical recommendation for sex assignment and required therapy. They must wholeheartedly agree and support the assigned sex to avoid ambivalence, which can lead to gender confusion and psychological trauma for the child.
Parents may be dealing with two major categories of children presenting with this problem:
- Virilized 46, XX females –females look like male
- Under virilized 46, XY males- males look like female
The most common cause of sexual ambiguity in newborns is congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Adrenal gland is situated above the kidneys and secretes several hormones.
As a general rule, gonadal tissue containing Y chromosomal material is at higher risk for development of malignancy.
When infant is born with ambiguous genitalia, and the sex of the infant is uncertain, what next ?
Accept the truth, cooperate with medical professionals as further testing is necessary to determine the infant’s sex. Explain all the relevant history during pregnancy that may help in a diagnosis.
Reference to more commonly understood birth defects may be useful. Several days may be necessary to complete the testing and a team will participate to make an accurate diagnosis and a considered recommendation.
Completion of the birth certificate should not be postponed, and sex assignment should not be delayed. Accept the sex assigned by Medical team.
What can cause genital ambiguity in newborn? Is it preventable?
Drug ingestion, alcohol intake, and ingestion of hormones during pregnancy can lead to such a situation. Hence Maternal history is particularly important. Progestational (androgenic) therapy used for threatened abortion or androgens for endometriosis during pregnancy should be avoided as far as possible. If the mother has signs of excessive androgen or parental family history for occurrence of ambiguity, neonatal deaths, consanguinity, or infertility it can lead to sex disorders.
What is the extent of problem?
The most common cause of a virilised female is congenital adrenal hyperplasia (CAH). Virilisation may also be caused by maternal ingestion of androgens or synthetic progesterone during the first trimester of pregnancy. The measurement increased ACTH in blood is useful for making a diagnosis. These babies have female chromosomes with male outlook, however they do have ovaries and uterus like any other female child.
An undervirilized male (previously called male pseudo hermaphroditism) refers to a male with female external genitalia. The abnormality may range from various grades of feminisation to a completely female phenotype. Such disorders result from deficient androgen stimulation of genital development and most often are secondary to testosterone biosynthetic defects. These boys have male chromosomes with female outward looks.
How the condition is diagnosed? What are the tests done?
The diagnosis of the origin of sexual ambiguity can rarely be made by examination alone, it is always combined with a series of tests. Tests are directed to determining the presence or absence of palpable gonads (presumably testes), the presence or absence of a uterus, and the karyotype to allows classification of the infant as a virilized female, an under virilized male, having a disorder of gonadal differentiation, or having one of the
unclassified forms. Certain forms of CAH may cause dehydration, hypertension, or areolar or genital hyperpigmentation. Turner’s stigmata may be present, including webbed neck, low hairline, and edema of hands and feet.
Radiographic studies are necessary to find out structural abnormalities like the presence of gonads and other reproductive structures. Pelvic ultrasound examination by qualified and experienced personnel should be performed as soon as
possible to look for a uterus. The presence of gonads, fallopian tubes, and a vaginal vault may also be determined. If necessary, a genitogram may be performed to see the lower reproductive organs like presence of vagina and its extent.
Because 21-hydroxylase deficiency is a common cause of sexual ambiguity, the level of 17-hydroxyprogesterone (17-OHP) should be assessed in all such infants who do not have palpable gonads. Screening of newborns for CAH with measurement of a 17-OHP level is now mandated in all 50 of the United States and in many countries throughout the world. A karyotype is essential and must be obtained expeditiously. Buccal smears are absolutely contraindicated because they are inaccurate. In many laboratories, a karyotype can be completed within 48 to 72 hours.
Defects in testosterone synthesis can be diagnosed by low testosterone levels with defect in its synthesis pathway (from the level of enzymes block either in the adrenal or in testicular pathways).
What is the role of parents in upbringing?
The decision about sex assignment must be carefully made, taking into consideration each “level” of sex determination. Sex assignment also depends on fetal sex hormone exposure, the potential for adult sexual function, and psychological and cultural considerations. It is vital that parents completely understand and support the decision because ambivalence about sex of rearing may result in gender confusion and psychological trauma.
Virilized females are usually assigned a female sex. They have normal ovaries as well as uterus and vaginal structures and, with surgical correction and steroid replacement, can have normal sexual function and achieve fertility. However, severely virilized females should be assigned a male sex.
Undervirilized males are often infertile, and sex assignment has usually been based on
phallic size. Adult social and fulfilling sexual function should be the primary goals of gender assignment. If male sex assignment is contemplated, a trial of depot testosterone (25 mg every 3-4 weeks) for 1 to 3 months indicates whether phallic growth is possible.
In patients with gonadal dysgenesis and Y chromosomal material, gonadectomy is necessary, and fertility is not possible. Internal duct structure is also frequently deranged. Small phallic size usually leads to a female sex assignment.
True hermaphrodites who have a unilateral ovary and uterine structures may have spontaneous puberty and normal fertility and may be raised as females. External genital size and structure may allow male assignment, but more commonly, external genitalia are poorly virilized, and affected infants are assigned a female sex.
What are the future prospective regarding marriage, child bearing etc.?
Parents must understand that having normal sexual performance does not correlate with reproductive ability. However, physicians always give preference to sexual ability than childbearing probability. Our aim in parenting is to give the child a sexual identity which may contradict the genetic makeup and at places may force us to sacrifice the gonads for future life.
We have much to learn about gender identity and must consider which decisions may be made later than previously thought (e.g., surgery). Some surgical interventions are cosmetic, and some affected patients have expressed the wish to make the decisions in adolescence or adulthood. This field challenges many of our perceptions of sex and gender and our role as physicians. Although the infant with genital ambiguity presents a medical and social emergency, decisions should be made carefully, cautiously, and with all necessary biochemical and anatomic information available. Most important, the multidisciplinary team approach must involve the parents in an open and honest
discussion of the options. In the end, it is the parents who come first in decision making on sex assignment.
A male child be with complete androgen insensitivity should be raised female. Complete androgen insensitivity usually does not have suspicion of ambiguity in the new born period or early childhood. Affected children grow as normal females until puberty. They feminize with normal breast development at puberty because high levels of testosterone are aromatized to oestrogen, but they have no pubic or axillary hair and no menses because they lack uterus and ovaries. Gender identity is usually female. Patients come to medical attention because of lack of menses in adolescent period.
The diagnosis is therefore frequently made when patients are in their middle to late teens. If diagnosed early the testes should be removed to prevent cancer and oestrogen therapy should start early. This therapy helps in developing the vagina and performance as a female is not compromised.
Undervirilized males traditionally, infants with 5-alpha-reductase deficiency were raised as females until puberty, then continued life as males, and, in some cases, achieved fertility. More recently, however, the condition has been recognized early in life, and affected males are now raised from infancy as boys.
Virilized females are usually assigned a female sex. They have normal ovaries as well as
Uterus and ovaries and, with surgical correction and steroid replacement, can have normal sexual function and achieve fertility.
However, severely virilised females should be assigned a male sex. They can perform sexual function as a male but cannot reproduce as they don’t have male gonads.
Patients with Y-related chromosomal or genetic disorders that cause mal development of one or both testes are said to have gonadal dysgenesis. They present with ambiguous genitalia and may have inadequate virilisation, uterus and vagina may be present in such children. The Y-containing dysgenetic testes are at risk for developing cancer and must be removed better reared as females.
How to deal with infertility in such cases?
Fertility potentiality is decided by karyotyping, presence of gonads and presence of uterus and vagina. Accordingly, they can go for gamete donation programme or surrogacy. The decision has to be taken after discussion with the couple.
Surrogacy is a method of assisted reproduction that helps biological parents start families when they cannot conceive naturally or by artificial methods. Couples pursue surrogacy for several reasons and come from different backgrounds.
There are two types of surrogacy arrangements: gestational surrogacy and traditional surrogacy. In gestational surrogacy, an egg is removed from the biological mother or an anonymous donor and fertilized with the sperm of the biological father or anonymous donor. The fertilized egg, or embryo, is then transferred to a surrogate who carries the baby to term. The child is thereby genetically related to the woman who donated the egg and the father or sperm donor, but not the surrogate. In a traditional surrogacy arrangement, a surrogate becomes pregnant with the use of her own eggs. Indian government legalised surrogacy in 2002 and from then gestational surrogacy is practiced in India.
GUIDELINES FOR SURROGACY –
- The ART clinic or Fertility Hospital must not be a party to any commercial element in donor programmes or in gestational surrogacy.
- A surrogate mother carrying a child biologically unrelated to her must register as a patient in her own name. While registering she must mention that she is a surrogate mother and provide all the necessary information about the genetic parents such as names, addresses, etc.
- She must not use/register in the name of the person for whom she is carrying the child, as this would pose legal issues, particularly in the untoward event of maternal death (in whose names will the hospital certify this death?).
- The birth certificate shall be in the name of the genetic parents. The clinic, however, must also provide a certificate to the genetic parents giving the name and address of the surrogate mother.
- Surrogacy by assisted conception should normally be considered only for patients for whom it would be physically or medically impossible/ undesirable to carry a baby to term.
- Payments to surrogate mothers should cover all genuine expenses associated with the pregnancy. Documentary evidence of the financial arrangement for surrogacy must be available. The ART centre should not be involved in this monetary aspect.
- A third-party donor and a surrogate mother must relinquish in writing all parental rights concerning the offspring and vice versa.
A child born through surrogacy must be adopted by the genetic (biological) parents unless they can establish through genetic (DNA) fingerprinting (of which the records will be maintained in the clinic) that the child is theirs.
- A prospective surrogate mother must be tested for HIV and shown to be seronegative for this virus just before embryo transfer. She must also provide a written certificate that (a) she has not had a drug intravenously administered into her through a shared syringe, (b) she has not undergone blood transfusion; and (c) she and her husband (to the best of her/his knowledge) has had no extramarital relationship in the last six months.
- No woman may act as a surrogate more than thrice in her lifetime
- A relative, a known person, as well as a person unknown to the couple may act as a surrogate mother for the couple. In the case of a relative acting as a surrogate, the relative should belong to the same generation as the women desiring the surrogate.
- A surrogate mother should not be over 45 years of age. Before accepting a woman as a possible surrogate for a particular couple’s child, the ART clinic must ensure (and put on record) that the woman satisfies all the testable criteria to go through a successful full-term pregnancy.
Surrogacy Rules and Regulations in India
2002 – gestational surrogacy allowed in India
2008- Commercial surrogacy allowed
2012- India bars foreign gay couples, singles from surrogacy
2016-Bill to Ban Commercial Surrogacy Introduced In
Lok Sabha, Bill is still under discussion.
No Visas to Foreigners Wanting to Visit India For Surrogacy
Surrogacy Should Be Allowed Only for Indian Couples, Government Says
2018- Central government’s women employees, whose children are born through surrogacy, will now be entitled to maternity leave, according to an official order of the personnel ministry.
Discussion on surrogacy bill
In August 2017, the Parliamentary Standing Committee submitted its 102nd report on the Surrogacy Regulation Bill, 2016.
The report gives a clause by clause analysis of the Bill. In it, the Committee has pointed out certain pertinent observations which clearly indicate the draconian nature of the Bill, which is based on impractical and paternalistic presumptions.
Traditional surrogacy or gestational surrogacy?
One of the biggest and most prominent drawbacks is the contradiction in the Bill with respect to whether traditional surrogacy is allowed or gestational surrogacy. Traditional surrogacy is one where the egg of the surrogate mother and the intended father’s sperm is used to conceive the child with the help of IVF technology. It is the most widely practised forms of surrogacy.
However, it has been widely criticised due to the genetic link with the surrogate mother, which can lead to several emotional complications for the parents. On the other hand, gestational surrogacy – also referred to as “full surrogacy” – is the case where the egg and sperm are of the commissioning parents and the surrogate mother carries the fertilised egg of the intended parents. Thus, all of the genetic material involved originates either from the intended parents or donors.
The Surrogacy Regulation Bill, 2016, under Section 4 (iii) (b) (III) lays down: “No women shall act as a surrogate mother or help in surrogacy in any way, by providing gametes or by carrying the pregnancy, more than once in her lifetime.”
The effect of this provision under the bill is that the surrogate mother can provide her gametes and be a surrogate as well. On this, the Standing Committee opined that, “… on the one hand the Department asserts that only Gestational surrogacy is permitted under the Bill, whereas clause 4(iii)(b)(III) advocates the concept of Traditional Surrogacy. Thus, there is an apparent contradiction between the Department assertions and provisions of clause 4(iii)(b)(III). The Committee, therefore, recommends that the infirmity in clause 4(iii)(b)(III) be rectified and the clause be amended suitably so as to spell out in unambiguous terms that the surrogate mother will not donate her eggs for the surrogacy.”
The object of the Bill is to prevent exploitation, PREVENT COMMERCIAL SURROGACY-
However, this very basic provision if not rectified can lead to the opening of a Pandora’s box, especially since the current Bill provides that surrogacy can only be performed by a “close relative”. The emotional stress and complications of having a close relative as a surrogate, on the life of the surrogate child, surrogate mother and the commissioning parents, is immeasurable.
Close relative as a surrogate
The Committee has very beautifully dealt with the issue of “close relative” being a surrogate. The object of this provision was to curtail exploitation of the surrogate; however, it would be unrealistic and very complex. The provision can be analysed from two perspectives. First and foremost, infertility is a taboo in India and for couples to come forward and undergo Artificial Reproductive Technique (‘ART’) procedures and surrogacy procedures is frowned upon. In such a situation, to force couples to only be able to have close relatives as surrogates is arbitrary and violative of their basic reproductive rights.
Second, in the context of the surrogate mother, it would be unfair for her to have to see the child repeatedly, and the effect the same would have on the child is a different matter of concern altogether. The Committee has recognised these factors and suggested that “limiting the practice of surrogacy to close relatives is not only non-pragmatic and unworkable but also has no connection with the object to stop the exploitation of surrogates envisaged in the proposed legislation.
“The Committee, therefore, recommends that this clause of “close relative” should be removed to widen the scope of getting surrogate mothers from outside the close confines of the family of the intending couple. In fact, both related and unrelated women should be permitted to become a surrogate.”
Waiting period 5 years before commissioning surrogate-
ART and surrogacy procedures have emerged essentially due to increasing infertility in the society. The current Bill defines infertility as the inability to conceive after five years whereas the previous draft Bills, of 2008 and 2014, defined it as the inability to conceive after one year.
The Committee has compared this definition of infertility with that given by the WHO and suggested that “since conception has many interplay functions, a five-year time bar would add to the misery of already distressed intending couples. The five-year waiting period is therefore arbitrary, discriminatory and without any definable logic. The Committee, therefore, recommends that the definition of infertility should be made commensurate with the definition given by WHO. The words ‘five years’ in clause 2(p) and 4 (iii) (c) II, be therefore, replaced with ‘one year’ and consequential changes be made in other relevant clauses of the Bill.”
This suggestion by the Committee is based on the basic fundamental Right to Reproduction and the Right to Privacy. How and when individuals wish to reproduce is their own personal discretion. The government can impose limitations and set criteria, however, the same should be rational and not arbitrary.
The Committee makes several other laudable suggestions, some of which take root from the previous ART Bills and some which are based on reasonable analysis of the current social-medical scenario. It suggested that ‘compensated surrogacy’ should be allowed and that single parents and live-in partners should be allowed to commission surrogacy.
Provision of breast milk banks
The Committee also recommended that there should be a provision of breast milk banks for the surrogate child, and a tripartite surrogacy agreement should be entered into between the parties instead of separate agreements, to make the process easier.
The Committee has analysed the bill in a very comprehensive manner and put forward suggestions which if not incorporated would have a domino effect and push the entire surrogacy industry underground, which in turn could lead to the exploitation of the all the members of the surrogacy arrangement. Surrogacy is undertaken by individuals to procreate and to found a family; the essence of that needs to be understood and retained.
The parliamentary standing committee on health after examining the Surrogacy (Regulation) Bill 2016 has made a case to allow surrogacy on payment of money on the grounds that “economic opportunities available to surrogates through surrogacy services should not be dismissed in a paternalistic manner”.
The committee observed that if many impoverished women are able to provide their children with education, construct home, start a small business, etc. by resorting to surrogacy, there is no reason to take this away from them. While it is mandated that organ, donation should be altruistic, the committee has held that altruistic surrogacy was “extreme and entails high expectation from a woman willing to become a surrogate without any compensation or reward”.
The Union Cabinet, chaired by Prime Minister Narendra Modi, on 21 st March 18 gave approval for amending the Surrogacy (Regulation) Bill, 2016 to provide for rights of child born through surrogacy to that of a natural child or biological child and mandate for surrogacy clinics to be registered with the appropriate authorities in the states.
The amendments also seek 16 months of extended insurance coverage for the surrogate mother to cover all complications besides a strict clause to safeguard the surrogate mother from exploitation, the Union Health Ministry said.
Also, Assisted Reproductive Technology (ART) now has been kept out of the purview of the Bill, it added.
The proposed legislation ensures effective regulation of surrogacy, prohibit commercial surrogacy and allow altruistic surrogacy to the needy Indian infertile couples, as per an official statement.
Once it becomes the Act, it will regulate the surrogacy services in the country, control the unethical practices in surrogacy and prevent its commercialization of surrogacy. It will also prohibit potential exploitation of surrogate mothers and children born through surrogacy.
HOW EVER THE FERTILITY CONSULTANTS AND PROSPECTIVE CUSTOMERS ALL OVER INDIA ARE EAGERLY WAITING FOR THE LEGALISATION OF SURROGACY BILL ,AS FOR THE TIME BEING THE TECHNOLOGY IS AT STANDSTILL.