Endocrine Abstracts

Introduction: Androgen insensitivity syndrome (AIS), also known as testicular feminization, encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. where there is resistance to androgen actions influencing both the morphogenesis and differentiation of androgen responsive body structures AIS is an X-linked recessive disorder. This disorder includes a spectrum of changes ranging from male infertility to completely normal female external genitalia in a chromosomally male individual that is classified as complete, partial, or mild based on the phenotypic presentation.

Case report: An 18-year-old diabetic,phenotypic female presented to the outpatient endocrinology department with primary amenorrhea. At the age of 13,her mother noticed that our patient’s voice became deep & her body hair became more excessive and in abnormal sites (especially above upper lip & chin) with acne.

Physical examination.

Normal vital signs, She had low pitched voice.

Weight: 66 kg/Height:166 cm (US/LS: 0.9) (span:170 cm)/BMI: 24 kg/m².

Facial acne Male distribution of body hair:Above upper lip, chin, chest, midline, back (thick, coarse, pigmented).

Breast: Tanner stage 1–2/Pubic hair: Tanner stage 5/External genitalia: clitoromegaly (2 cm).

Severe tenderness on palpation along medial side of inguinal region on both sides.

Hormonal profile: elevated FSH, testosterone with normal LH, Estradiol, PRL.

∆4-Androstenedione 1.3 ng/ml (N: 0.4–4.5)/Testosterone 6.9 ng/ml (N: 0.1–1).

FSH 90 mIU/Ml (N: 1–12) LH 2.3 mIu/MI (N:1.9–12.5)/prolactin 10 ng/ml (N:2–29 ng/ml).

Trans-rectal US: uterus and ovaries are not visualized/MRI pelvis: Non visualized uterus & ovaries.

Bilateral inguinal ovoid structures are seen representing undescended testes (Rt 2.5 × 2 cm) (LT 2 × 2 cm). karyotyping: The case showing male genotype 100% (46XY).

Conclusion: Androgen insensitivity syndrome is distressing to the patient as well as to the family. Systemic disclosure of the diagnosis in an empathic environment with both professional and family support is encouraged. Patient will be benefited by a multidisciplinary approach including gonadectomy, detailed and repeated psychological counseling along with estrogen replacement. The medical and psychological prognosis for a woman with androgen insensitivity syndrome is excellent if she has appropriate support and counseling.