COMPREHENSIVE NURSING CARE FOR PATIENTS WITH 46,XY DISORDERS OF SEX DEVELOPMENT (COMPLETE ANDROGEN INSENSITIVITY SYNDROME): A CASE REPORT

Abstract

Introduction: Complete androgen insensitivity syndrome (CAIS) is a rare 46,XY disorder of sex development (DSD) caused by pathogenic mutations in the androgen receptor (AR) gene. Affected individuals have a 46,XY karyotype but a completely female phenotype. Diagnosis is usually made during adolescence due to primary amenorrhea and may result in significant psychological distress, including anxiety, grief, and identity-related concerns. Nursing care is central to postoperative management, psychosocial support, and long-term patient education.

Case presentation: We report the case of a 20-year-old phenotypic female patient who presented with primary amenorrhea. CAIS was diagnosed based on a female phenotype (Tanner stage V, absence of pubic and axillary hair), a 46,XY karyotype, a pathogenic AR gene mutation, absence of the uterus and ovaries, and bilateral intra-abdominal testes. The patient expressed a consistent and explicit intention to continue living as a woman and underwent laparoscopic bilateral gonadectomy.

Nursing care process: This report focuses on three main aspects of nursing care: (1) immediate postoperative surgical care following laparoscopic gonadectomy; (2) patient education and preparation for lifelong estrogen replacement therapy (ERT); and (3) psychosocial support delivered with tactful and appropriate communication while respecting the patient’s expressed gender identity.

Conclusion: Successful management of CAIS requires a multidisciplinary team approach. Nurses play a central coordinating role, helping patients adapt to the psychological impact of the diagnosis, ensuring postoperative safety, and preparing them practically and psychologically for long-term hormone therapy, thereby facilitating social integration.

1. Introduction

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, or anatomical sex characteristics. Androgen insensitivity syndrome (AIS) is one of the most common causes and results from mutations in the androgen receptor (AR) gene located on the X chromosome. AIS is rare, with an estimated prevalence of 1 in 20,000 to 1 in 64,000 individuals with a 46,XY karyotype.

In complete androgen insensitivity syndrome (CAIS), despite having a 46,XY karyotype and testes capable of androgen production, the body is entirely resistant to androgen action, resulting in a typical female phenotype. Consequently, diagnosis is often delayed until adolescence when patients present with primary amenorrhea. Prior to diagnosis, many cases are misidentified as inguinal hernias in children raised as girls.

Disclosure of information such as the presence of a 46,XY karyotype and the absence of a uterus to a young woman can cause profound psychological distress, particularly during adolescence, when social conformity is highly valued.

Management of DSD requires a multidisciplinary team involving endocrinologists, surgeons, geneticists, and mental health professionals. Within this team, specialized nursing care is essential, providing continuous support, tactful and appropriate communication, and serving as a trusted liaison between patients, families, and healthcare providers. This report presents a detailed nursing care process for a patient with CAIS treated at Hanoi Medical University Hospital.

2. Case Presentation

Clinical data were extracted from the medical records of patient Dao K. P., Hanoi Medical University Hospital.

Patient: Dao K. P., 20 years old (born in 2005), phenotypic female.

Reason for admission (October 2024): Primary amenorrhea.

Medical history and clinical examination

The patient presented with a female phenotype and a female gender identity and had been socially reared and living as a woman. Pubertal development was normal with breast development, but menstruation had never occurred.

Physical examination revealed a height of 170 cm and weight of 54.8 kg with a well-proportioned body habitus. Breast development corresponded to Tanner stage V. There was a complete absence of pubic and axillary hair. External genitalia were female, with a blind-ending vagina measuring 45–50 mm.

Laboratory and imaging findings

Hormonal evaluation (August 2023) showed elevated testosterone (27.28 nmol/L), elevated luteinizing hormone (36.33 mIU/mL), and elevated anti-Müllerian hormone (23.96 ng/mL), consistent with androgen resistance.

Pelvic magnetic resonance imaging (October 2024) demonstrated absence of the uterus and ovaries and identified bilateral testes located high in the inguinal canals, measuring approximately 33×18×13 mm and 32×22×13 mm.

Genetic analysis (October 2024) revealed a 46,XY karyotype and a hemizygous pathogenic variant in the AR gene: c.2566C>T (p.Arg856Cys).

Diagnosis

The patient was diagnosed with complete androgen insensitivity syndrome. She expressed a consistent and explicit intention to continue living as a woman.

Surgical intervention (October 2025)

Following multidisciplinary consultation, laparoscopic bilateral gonadectomy was indicated.

On 2nd October 2025, the patient underwent laparoscopic bilateral gonadectomy with preperitoneal mesh placement using the transabdominal preperitoneal (TAPP) technique.

Histopathological examination revealed benign Sertoli cell adenomas in both testes. The testicular tissue was fibrotic, with seminiferous tubules containing only Sertoli cells and no evidence of spermatogenesis. No malignant features were identified.

3. Nursing Care

The patient was admitted to the elective care unit on 1^st October 2025 for surgery. Nursing care followed standardized protocols and was individualized according to the patient’s clinical and psychological needs.

3.1 Nursing Assessment

Preoperatively, the patient was alert with normal skin and mucosa. Nursing staff completed admission procedures, explained ward regulations, prepared the patient for surgery, and coordinated medical evaluation.

Postoperatively, the patient returned from the operating room fully conscious. Mild postoperative hyperthermia (37.5°C) and mild incisional pain were noted. Three trocar wounds were clean and dry, and an indwelling urinary catheter drained clear yellow urine.

3.2 Nursing Diagnoses

Acute pain related to laparoscopic surgical intervention.
Risk of infection related to surgical wounds and urinary catheter.
Mild postoperative hyperthermia.
Anxiety related to postoperative pain and recovery.
Insufficient understanding of postoperative care and the necessity of lifelong hormone replacement therapy.

3.3 Nursing Care Plan

The goals of care were to ensure postoperative safety, effective pain control, and infection prevention; to promote psychological stability while respecting the patient’s expressed gender identity; and to provide structured patient education to support adherence to long-term estrogen replacement therapy and home care.

3.4 Nursing Interventions

Postoperative surgical care (2^nd - 6^th October 2025) included twice-daily monitoring of vital signs, with fever resolution by 3^rd October. Analgesics were administered according to medical orders, with gradual resolution of pain by 5^th - 6^th October. Surgical wounds were monitored daily and remained clean and dry. The urinary catheter was removed on the evening of 3^rd October, after which spontaneous urination resumed normally.

Nutritional intake progressed from a soft diet on 2^nd October to a regular diet from 3rd October. Early ambulation was encouraged and well tolerated.

Psychosocial support was provided through reassurance, maintenance of privacy, and consistent respect for the patient’s expressed gender identity. The patient remained emotionally stable throughout hospitalization.

Patient education was conducted daily, with emphasis before discharge on the importance of lifelong estrogen replacement therapy to maintain secondary sexual characteristics and prevent osteoporosis, appropriate home wound care and recognition of warning signs, and adherence to scheduled follow-up appointments and suture removal.

3.5 Evaluation

The patient was discharged on 6^th October 2025 in stable condition. She was afebrile, pain-free, and independently mobile. Surgical wounds were clean with no signs of infection. The patient and her family demonstrated understanding of the ongoing treatment plan. Discharge instructions included follow-up after four weeks, suture removal after seven days at a local healthcare facility, and initiation of hormone therapy as scheduled.

4. Discussion

This case highlights the multifaceted role of nursing in the management of disorders of sex development. Beyond routine postoperative care, nurses play a critical role in addressing psychological distress and supporting long-term endocrine management.

Gonadectomy at age 20 is consistent with current recommendations. Delaying surgery until after puberty allows spontaneous development of female secondary sexual characteristics through aromatization of testicular testosterone to estrogen. However, after puberty, the risk of gonadal malignancy increases with age, supporting the indication for prophylactic gonadectomy.

Histopathological findings in this case revealed benign Sertoli cell adenomas, consistent with reports of benign stromal tumors in CAIS. Nevertheless, the risk of malignant transformation is well documented. Reports of seminoma developing in older patients with CAIS who declined surgery further support the recommendation for timely prophylactic gonadectomy. The presence of Sertoli cell tumors in this young patient suggests early pathological changes and reinforces the appropriateness of early surgical intervention.

Following gonadectomy, endogenous estrogen production ceases. Nursing education regarding strict adherence to estrogen replacement therapy is essential. Lifelong estrogen therapy until the age of natural menopause is required to maintain secondary sexual characteristics, preserve bone density, and support cardiovascular and psychological health.

Psychologically, nurses are often the healthcare professionals with the most frequent patient contact. Diagnosis during adolescence or young adulthood can be profoundly distressing; therefore, nursing interventions must prioritize confidentiality, respect for the patient’s expressed gender identity, and facilitation of access to psychological counseling and peer support networks.

5. Conclusion

Comprehensive care for patients with 46,XY complete androgen insensitivity syndrome requires a multidisciplinary approach, with nursing care playing a central coordinating role. This case demonstrates that structured nursing interventions - from meticulous postoperative monitoring to psychosocial support and patient education - are essential in helping patients adapt to the diagnosis, accept their condition, and adhere to long-term hormone therapy, ultimately improving quality of life.

6. References

Delli Paoli E, Di Chiano S, Paoli D, Lenzi A, Lombardo F, Pallotti F. Androgen insensitivity syndrome: a review. Journal of Endocrinological Investigation. 2023;46(11):2237–2245.

Nguyen Van Hai. Androgen insensitivity syndrome: a case report and literature review. Vietnam Journal of Medicine. 2025;550(1):205–208.

Guo M, Huang JC, Li CF, Liu YY. Complete androgen insensitivity syndrome: a case report and literature review. Journal of International Medical Research. 2023;51(2):03000605231154413.

Davies K. The XY female: exploring care for adolescent girls with complete androgen insensitivity syndrome. Comprehensive Child and Adolescent Nursing. 2019;42(Suppl 1):1–12.

Luong Thi Lan Anh, Tran Duc Phan, Doan Thi Kim Phuong, et al. Identification of novel AR gene mutations in patients with androgen insensitivity syndrome. Journal of Medical Research. 2021;147(11):47–54.

Cools M, et al. Global DSD update: a 2024 consensus statement on the diagnosis and management of differences of sex development. Nature Reviews Endocrinology. 2023;20(3):165–186.

Thi Bich Huyen, Ta¹*; Thi Thu Phuong, Nguyen¹; Thi Thu Trang, Bui¹; Thi Nhung, Tran¹; Thi Anh Dao, Nguyen¹; Phuong Anh, Hoang²; Thi Thao, Nguyen¹

¹ Department of Special Under Request, Hanoi Medical University Hospital, Ton That Tung, 100000 Hanoi, Vietnam

² Faculty of Nursing and Midwifery, Hanoi Medical University, Ton That Tung, 100000 Hanoi, Vietnam

* Correspondence:

Thi Bich Huyen, Ta.

Email: huyenta23031997@gmail.com