Reproductive Endocrinology

MON-148 - Missed In Childhood: Congenita Anorchia Presenting In Adulthood With Hypogonadism And Infertility

Monday, June 15, 2026

9:00 AM - 2:00 PM CT

Location: ENDOExpo; Poster Floor

Submitting author(s)

HP

Himani Patel, MD

Fellow
ST LUKE'S HOSPITAL & HEALTH NETWORK
Bethlehem, United States

Co-Author(s)

NM

Neha Meda, Fellow

St Luke's University Health Network
Easton, United States

Abstract Poster Presenter(s)

BB

Bankim Bhatt, MD

St. Luke's University Health Network
Center Valley, Pennsylvania, United States

Co-Author(s)

BB

Bankim Bhatt, MD

St. Luke's University Health Network
Center Valley, Pennsylvania, United States

Introduction: Bilateral Anorchia, defined as absent testes in a 46, XY individual results from either true testicular agenesis or testicular regression syndrome. When testicular regression occurs after sexual differentiation, affected individuals are typically born with normal male external genitalia and absence of Müllerian duct derivatives. Congenital anorchia is a rare disorder diagnosed during infancy or childhood, but delayed presentation in adulthood is uncommon.
Despite well-defined biochemical and developmental criteria, congenital anorchia remains underrecognized, particularly when diagnosed in adulthood, leading to prolonged untreated hypogonadism and avoidable metabolic, skeletal, and psychosocial consequences.

Case: A 32-year-old man, with minimal prior healthcare contact, initially presented to urology for infertility evaluation. He was noted to have a micropenis and low testosterone level, following which he was referred to Endocrinology. He reported history of erectile dysfunction, absent ejaculation, decreased libido, and lack of secondary sexual characteristics. He has no known medical history and does not take any medication or supplements. He denied any previous trauma to testes or prior infections with mumps. He reported no family historyof hypogonadism.
On physical exam he had bilateral gynecomastia, a small phallus measuring 3cm (flaccid), and a developed scrotum without palpable testes. The rest of the physical exam was unremarkable. Initial Biochemical testing demonstrated total testosterone 23 ng/dL (264-916 ng/dL), free testosterone 2 pg/mL (8.7-25.1 pg/mL), follicle stimulating hormone 33.6 mIU/mL (0.7-10.8 mIU/mL), and luteinizing hormone 12 mIU/mL (1.2-10.6 mIU/mL). Karyotype analysis revealed a normal 46, XY male genotype. Ultrasound of scrotal, groin, retroperitoneal complete, and MRI of pelvis with and without contrast failed to identify testes, prostate, or seminal vesicles. After discussion with urology, the decision was made to perform diagnostic laparoscopy with bilateral inguinal exploration. He was noted to have blind-ending spermatic vessels without identifiable testicular tissue; pathology confirmed benign adipose tissue and absence of gonadal tissue, consistent with gonadal dysgenesis vs anorchia.

Management: Testosterone replacement therapy (TRT) was initiated and titrated to biochemical targets. The patient developed virilization, including voice deepening, increased hair growth, and ejaculation despite absence of testes and prostate. Gynecomastia remained minimal. Infertility was irreversible

Conclusion: This case highlights the importance of a thorough history, physical exam, and diagnosis of congenital anorchia in adult male presenting with primary hypogonadism and infertility. Early recognition is critical to prevent long-term complications and initiate timely hormone replacement.

*Unless otherwise noted, all abstracts presented at ENDO must not be released to the press or the public until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.*