ECE2023 Poster Presentations Reproductive and Developmental Endocrinology (108 abstracts)
Searching For The Testicles: A Medical Mystery?
Sabina Maria Dumitrache 1 , Raluca Stan 2 , Iustina Grosu 1 , Ana Zubaci 3 , Marina Iliescu 3 , Mihaela Tarna 3 , Alexandra Mirica 4 , Luminita Nicoleta Cima 1 & Luminita Cima 1
1Spitalul Universitar de Urgență Elias, Endocrinology, București, Romania; 2Spitalul Universitar de Urgență Elias; 3Spitalul Universitar de Urgență Elias, București, Romania; 4Spitalul Clinic de Urgență pentru Copii Grigore Alexandrescu, Endocrinology, București, Romania
Introduction: Cryptorchidism is unilateral or bilateral absence of the testes from the scrotum. One of the differential diagnosis is congenital bilateral anorchia. Vanishing testes syndrome is associated with low serum AMH concentrations and an absent or subnormal response to stimulation with hCG. We report the case of a 22-year-old boy diagnosted with bilateral cryptorchidism and hypergonadotropic hypogonadism at the age of 17 years old. At the time of diagnosis the scrotum was empty and we could notice the failure of secondary sexual development (no pubic and axillary hair was present). The laboratory tests showed a low total testosterone=0.11ng/ml, low free testosterone with elevated FSH=37.30mUI/ml and LH=14.2mUI/ml and beta-hCG. Altough congenital bilateral anorchia is quite rare, it must be distinguished from bilateral cryptorchidism. The most commonly used test is measurment of AMH, in our case: AMH<0.010 ng/ml. The laboratory tests showed discordant values of Inhibin B: low/normal. To evaluate the testicular function, beta-hCG stimulation test was performed and the result was negative. Also, the pacient unterwent a spermiogram revealing aspermia. The patient performed multiple imaging investigations (repeated ultrasound scans, abdominal and pelvis MRI, abdominal and pelvis CT) that couldn’t identify the gonads. The imaging investigations were completed with chromosomal analysys which disclosed a 46XY karyotype (Klinefelter syndrome being thus excluded). Together with the urologist, we decided to monitorize beta-hCG values and undergo an exploratory laparoscopy when the value will be five times upper high. The pacient started treatment with transdermic testosterone that was replaced after 1 year with intramuscular testosterone
Conclusions: Altough vanishing testes syndrome is extremly rare, it must be differentiated from bilateral cryptorchidism, a much more common disorder that can be complicated by testicular germ cell neoplasm if not healed in early childhood. At the same time, it must be emphasized the importance of self-examination and complete physical exam of the genital development from an early age.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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