What are the appropriate management steps for a 16-year-old with primary amenorrhea, normal breast development, and a pelvic ultrasound showing testes and no uterus, and for a 20-year-old with undervirilization and a family history of similar conditions?

From the FDA Drug Label

INDICATIONS AND USAGE Males Testosterone Enanthate Injection, USP is indicated for replacement therapy in conditions associated with a deficiency or absence of endogenous testosterone. Primary hypogonadism (congenital or acquired) – Testicular failure due to cryptorchidism, bilateral torsion, orchitis, vanishing testis syndrome, or orchidectomy Hypogonadotropic hypogonadism (congenital or acquired) – Gonadotropin or luteinizing hormone‑releasing hormone (LHRH) deficiency, or pituitary-hypothalamic injury from tumors, trauma, or radiation.

For a 16-year-old with primary amenorrhea, normal breast development, and a pelvic ultrasound showing testes and no uterus, the diagnosis is likely Androgen Insensitivity Syndrome (AIS). The appropriate management steps include:

• Hormone replacement therapy: Initiation of estrogen replacement therapy to maintain female secondary sexual characteristics.
• Gonadectomy: Removal of the testes to prevent future complications, such as testicular cancer.
• Psychological support: Counseling and support to address the emotional and psychological aspects of the condition.

For a 20-year-old with undervirilization and a family history of similar conditions, the diagnosis is likely 5-alpha reductase deficiency. The appropriate management steps include:

• Hormone replacement therapy: Initiation of testosterone replacement therapy to induce male secondary sexual characteristics.
• Surgical correction: Genitoplasty to correct any genital abnormalities.
• Psychological support: Counseling and support to address the emotional and psychological aspects of the condition 1.

USMLE Step 2 CK style questions:

1. A 16-year-old female presents with primary amenorrhea and normal breast development. A pelvic ultrasound reveals the presence of testes and the absence of a uterus. What is the most likely diagnosis and what are the appropriate management steps?
2. A 20-year-old male presents with undervirilization and a family history of similar conditions. What is the most likely diagnosis and what are the appropriate management steps?

From the Research

For a 16-year-old with primary amenorrhea, normal breast development, and pelvic ultrasound showing testes without a uterus, the management should begin with genetic testing to confirm Complete Androgen Insensitivity Syndrome (CAIS), followed by gonadectomy after puberty is complete, and hormone replacement therapy with estrogen to maintain secondary sexual characteristics and bone health, as supported by the most recent study 2.

The condition requires multidisciplinary care including a pediatric endocrinologist, gynecologist, psychologist, and genetic counselor.

• Genetic testing is essential to confirm the diagnosis of CAIS.
• Gonadectomy is recommended after puberty is complete, typically between ages 16-18, due to a 2-5% risk of malignancy.
• Hormone replacement therapy with estrogen, such as estradiol 1-2mg daily, should be initiated after gonadectomy to maintain secondary sexual characteristics and bone health.

For the 20-year-old with undervirilization and family history, management includes:

• Genetic testing for partial androgen insensitivity syndrome (PAIS)
• Psychological support
• Hormone therapy based on gender identity
• If identifying as male, testosterone supplementation may be tried, though response varies
• If identifying as female, gonadectomy with estrogen replacement would be recommended

Both patients need thorough counseling about their diagnosis, fertility implications, and psychological support to address gender identity and body image concerns.

• Regular follow-up should include bone density monitoring, hormone level assessment, and screening for complications like osteoporosis or cardiovascular issues, as highlighted in the study 3.
• The importance of multidisciplinary care and counseling is emphasized in the study 4.
• The need for early diagnosis and management to prevent gonadal malignancy is stressed in the study 5.

In terms of 5-alpha reductase deficiency, it is a rare condition that affects the production of dihydrotestosterone (DHT), leading to undervirilization in individuals with a 46,XY karyotype.

• Management includes genetic testing, psychological support, and hormone therapy based on gender identity, as discussed in the study 6.
• If identifying as male, testosterone supplementation may be tried, though response varies.
• If identifying as female, gonadectomy with estrogen replacement would be recommended.

Here are two USMLE step 2ck style questions:

1. A 16-year-old female presents with primary amenorrhea and normal breast development. Pelvic ultrasound shows testes without a uterus. What is the most likely diagnosis and what are the appropriate management steps?
2. A 20-year-old individual with a family history of undervirilization presents with undervirilization. What is the most likely diagnosis and what are the appropriate management steps, including genetic testing and hormone therapy?