Hermaphroditism refers to a set of conditions characterized by a mismatch between external and internal genitalia, resulting in an individual who does not conform to the conventional binary classification of male or female bodies. The sexual development that is still found in many medical writings is vague, demeaning and sensationalistic conjuring mythic images of monsters and freak.(1) Intersex is an umbrella term used to describe a wide range of natural body variations.(2) Intersex refers to the state of being born with biological sex characteristics that vary from usual male or female. In 2005 a meeting of medical professionals proposed a new term against the vague taxonomy of hermaphroditism, congenital eunuchs and intersex to a newer term, ‘Disorder of Sex Development (DSD)’.(3) The “Consensus statement of management of intersex disorders” was published in 2006 in which DSD were defined as “congenital conditions in which development of chromosomal gonadal or anatomical sex is atypical.”(4,5) The disorder is problematic with pathetic condition and implies the medical condition with physiological and psychological implications. The disorder of sex development are rare disorders involving genes, hormones and reproductive organs including genitals that do not conform with normal people. In a normal somatic cell, 23 pairs of human chromosomes called karyotype are arranged in descending order of size and position of centromere. In 22 pairs, the homologues chromosomes look alike and have the same appearance in both males and females called autosomes The 23rd pair of chromosomes is known as the sex chromosomes, which are XY in males and XX in females. The determination of sex is a genetic process that relies on the makeup of the sex chromosomes, referred to as genetic sex. The phenotype, or physical characteristics, related to sex is influenced by the features of the internal reproductive tract. Sex chromosomes in the XX configuration carry genes that determine female characteristics and direct the formation of ovaries, while the XY configuration, with the presence of the Y chromosome, contains male-determining genes that lead to the development of testes. In cases of Disorders of Sexual Development (DSD), individuals may possess XX chromosomes typically associated with females or XY chromosomes aligned with males, yet their reproductive organs and genitals may appear atypical and not align with their genetic sex. This discrepancy arises from genetic variations or the body's response to sex hormones. Despite advancements in diagnostic techniques, the underlying causes of DSD remain unclear. Disorders of Sexual Development are categorized into four groups: • 46 XX – Individuals have XX sex chromosomes and ovarian tissue typical of females; however, the external genitals may appear male, a condition known as 46 XX virilization. This can arise from Congenital Adrenal Hyperplasia, exposure of a female fetus to male hormones such as testosterone during pregnancy, a tumor in the mother producing male hormones, or Aromatase deficiency. Aromatase is an enzyme that transforms testosterone into female hormones, and a deficiency of this enzyme during puberty can lead to a 46XX condition. • 46 XY – Individuals hold XY sex chromosomes and have testes characteristic of males, but their external genitals may appear female and ambiguous, a situation identified as 46 XY under virilization. This can result from gonadal dysgenesis, a lack of enzymes necessary for testosterone production, a deficiency in the enzyme 5-alpha reductase, which is the most common reason, or Androgen Insensitivity Syndrome, sometimes referred to as testicular feminization. • True Gonadal Disorders – Individuals may have either XX or XY chromosomes or a combination of both. They may possess both ovarian and testicular tissues or one of each, leading to external genitalia that might be ambiguous or appear distinctly male or female. The exact cause remains unknown, though it might be related to exposure to common agricultural chemicals. • Complex Disorders of Sexual Development – Various chromosomal configurations, such as 45 XO, 47 XXY, and 47 XXX, typically do not result in inconsistencies between internal and external genitalia but can be attributed to issues with hormone levels, overall sexual development stability, or variations in the number of sex chromosomes. The DSD are identified at birth or at puberty needs counselling with health care providers.(7) The various diagnostic tests viz. Karyotyping, Hormone levels, Hormone stimulation tests, Molecular testing, Endoscopic examination to verify Cervix/Vagina, and Ultrasound, MRI to evaluate the presence of gonads. The health care providers who specialize in surgical intervention of DSD should understand each case thoroughly to support and give gender identity to the child. The case report illustrates a rare disorder of sexual development characterized by resistance to androgenic action, resulting in s spectrum of genital ambiguity. The uniqueness of case lies in early age of presentation while clinical evaluation, hormonal assays and imaging studies facilitated the diagnosis. Apart from the physiological aspects such as fertility prospects and surgical management, the case highlights the significant psychological burden on both the child and the family, underlining the necessity of a multidisciplinary approach with integrated psychological support. It adds to the scarce literature on early childhood presentations of Partial Androgen Insensitivity Syndrome, stressing the value of early diagnosis, appropriate counselling, and tailored long-term follow-up.

All the ethical guidelines were followed and consent was taken from the parents as per norms. A two-and-a-half-year-old baby with ambiguous genitalia reported in the OPD. The baby did not conform to the usual pattern of normal children The parents reported of the baby born with ambiguous genitalia. On examination, the labia enclosed a hidden small penis with palpable gonads. The ambiguous genitals did not conform to male or female. The child underwent investigations in the form of Renal Function tests, Liver function tests, Karyotyping, Ultrasonography, Retrograde Urethrogram and Levels of Testosterone and Dihydrotestosterone. The Renal and Liver Function tests were normal. The Chromosomal analysis revealed 46 XY karyotype. The Ultrasonography demonstrated no uterus or ovaries with male gonads. The Retrograde Urethrogram showed male type of Urethra with vaginal pouch. The hormone levels demonstrated normal level of testosterone and dihydro-testosterone. The normal level of testosterone excluded gonadal dysgenesis and deficiency of enzymes involved in the synthesis of testosterone while normal level of dihydro-testosterone excluded 5-α reductase deficiency. Hence complete investigations pointed towards Androgen Insensitivity Syndrome. After proper counselling, guiding and consent of the parents, the patient was taken for surgery where feminizing genitoplasty with gonadectomy was done and the child is reared as female now on vaginal dilatation and Hormonal therapy.

The intersex variations lately known as Disorders of Sexual Development encompass diverse set of congenital differences related to gonads, chromosomes and genitals that fall outside the typical binary notions of male and female sex. (8) These conditions are diagnosed in-utero, at birth, in childhood or in adulthood while some remain undiagnosed. It is challenging to estimate the prevalence of intersex conditions as no existing population studies include questions about intersex diagnosis and feeling of shame and stigma to disclose the condition.(9) National Institute of Health (NIH) recognises intersex people as Sexual and Gender Minority Population (SGM) affected by health disparities and highlight them as priority area for research.(10) The upbringing of infant and child with DSD is challenging for the parents. Moreover, there is social stigma associated with their survival and growth. The intersex people face discrimination right from the birth or following their discovery of intersex traits during puberty. They may face infanticide, abandonment and stigmatization from their families. There are no specialized governmental plans and services associated with the growth and development of individuals with DSD. The frustration of the parents ends up with the consultation with the healthcare provider to provide gender identity. The case report demonstrates hospitalisation and thorough investigation of a two-and-a-half-year-old baby presented with ambiguous genitals. A diagnosis of Androgen Insensitivity Syndrome (AIS) has been confirmed. AIS affects the genital and reproductive organs of the individual. There are two forms of AIS, namely Complete Androgen Insensitivity Syndrome (CAIS) and Partial Androgen Insensitivity Syndrome (PAIS). • In CAIS, the genitals of the individual appear female, and testosterone does not have an impact on sexual development. CAIS can be difficult to identify as the genitals look similar to those of any other girl. It is often not diagnosed until puberty when menstruation does not occur and there is a lack of development of pubic and underarm hair. Treatment for CAIS includes Androgen replacement therapy after puberty, and surgical options are not provided until the individual reaches adolescence or adulthood. Undescended testes will be surgically removed due to the potential risk of cancer. • In PAIS, the external genitalia are categorized as either male or female. It is identified at birth due to the noticeable differences in the genital appearance. PAIS is treated with corrective surgery to establish gender identity. Boys with PAIS are operated to remove testes and offered androgens to encourage male characteristics viz. facial hair and secondary sex characteristics. Girls with PAIS are offered vaginal reconstruction and dilatation until puberty along with estrogen replacement therapy to encourage puberty. They don’t develop periods as they do not have uterus but develop female body shape. The case highlights Partial Androgen Insensitivity Syndrome (PAIS), an uncommon disorder of sex development, making it important for documentation and medical learning. Its significance lies in the early presentation at just two-and-a-half years of age, whereas many cases of AIS—especially complete forms (CAIS)—are usually detected around puberty. The child presented with ambiguous genitalia showing both male and female characteristics, including a concealed penis, palpable gonads, and a vaginal pouch, underscoring the diagnostic complexity and clinical rarity. A comprehensive evaluation was performed with chromosomal studies, ultrasonography, retrograde urethrogram, and hormonal profiling (testosterone and dihydrotestosterone). Management included feminizing genitoplasty with gonadectomy, followed by hormonal replacement therapy and vaginal dilatation. The case illustrates the practical application of the 2006 Consensus Statement on DSD management, demonstrating how established guidelines can be effectively implemented in clinical practice and thereby contributing to global efforts toward standardizing care. Psychological Support The people with AIS and their parents are psychologically supported by a team of psychologists and health care providers. The psychological support and genetic counselling is the most important part of care that enables the child to understand their body and its functioning. The important component of advice is to raise the child to a particular gender identity. Parents are involved in conversations regarding their infants, but as children mature, older kids and adults can engage in discussions with healthcare professionals on their own. Specialized healthcare teams provide guidance to children with CAIS, who are raised as girls due to their female genitalia and insensitivity to testosterone, and they identify as female. Raising children with PAIS can be more challenging since they may not be fully developed for either male or female identities. Adequate psychological support can help them grasp their gender identity. As the child grows, parents have inhibition and are stressed to speak about their AIS. However, both parental knowledge and psychological support enables them to understand their body before they reach puberty. The past approach to avoid the physician’s disclosure to the patient or parents is no longer accepted.(11,12) The abandoning of baby because of social stigma, guilt and shame is no longer practiced. The Specialist team, psychological support, Social and Cultural factors are important modifiers in this process. The individuals with DSD should be registered under a separate database by Birth /Death registration agencies. Psychological support at each level is must so that they do not threaten their life. However, more studies are needed to comment on the quality of life, sex life and long-term outcomes.

Androgen insensitivity Syndrome are the vulnerable group that need specialized care and psychological support to identify their gender and lead a normal life as suboptimal male or female. The case emphasizes not only the medical/surgical aspects but also the psychological support and counselling required for both parents and child, underlining the holistic management of DSD. The case report encourages reporting and research on long-term outcomes, quality of life, and psychosocial adaptation in AIS patients. • Publication consent: The authors confirm that they have secured all necessary patient consent documents. They acknowledge that no names or initials will be disclosed, and reasonable efforts will be made to protect identities. • Availability of data and material: Available on request. • Competing interests • Funding • Authors' contributions: Dr. Lucky Gupta performed the surgery and provided the details and Dr Neena Sharma conceptualized the physiological aspects of Disorders of Sexual Development and wrote the manuscript. • Acknowledgements: None

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