Vanishing testes syndrome-related osteoporosis and high cardio-metabolic risk in an adult male with long term untreated hypergonadotropic hypogonadism

Abstract

SUMMARYThe male hypogonadism-related bone mass loss is often under diagnosed. Peak bone mass is severely affected if the hypogonadism occurs during puberty and is left untreated. We present an interesting; almost bizarre case of a male with non-functional testes early during childhood and undiagnosed and untreated hypogonadism until his fifth decade of life. Forty six year male is referred for goitre, complaining of back pain. Phenotype suggested intersexuality: gynoid proportions, micropenis, no palpable testes into the scrotum, no facial or truncal hair. His medical history had been unremarkable until the previous year when primary hypothyroidism was diagnosed and levothyroxine replacement was initiated. Later, he was diagnosed with ischemic heart disease, with inaugural unstable angina. On admission, the testosterone was 0.2 ng/mL (normal: 1.7-7.8 ng/mL), FSH markedly increased (56 mUI/mL), with normal adrenal axis, and TSH (under thyroxine replacement). High bone turnover markers, and blood cholesterol, and impaired glucose tolerance were diagnosed. The testes were not present in the scrotum. Abdominal computed tomography suggested bilateral masses of 1.6 cm diameter within the abdominal fat that were removed but no gonadal tissue was confirmed histopathologically. Vanishing testes syndrome was confirmed. The central DXA showed lumbar bone mineral density of 0.905 g/cm 2 , Z-score of -2.9SD. The spine profile X-Ray revealed multiple thoracic vertebral fractures. Alendronate therapy together with vitamin D and calcium supplements and trans-dermal testosterone were started. Four decades of hypogonadism associate increased cardiac risk, as well as decreased bone mass and high fracture risk. Arch Endocrinol Metab. 2016;60(1):79-84

“Waking up” the sleeping metaphor of normality in connection to intersex or DSD: a scoping review of medical literature

“…We checked the grip strength of our patient and recorded abnormally low levels for the male sex, within the normal ranges for a woman of the same age. Interestingly in this case the patient had no sexual activity, preferences, sexual interest or needs probably due to the effects of early testosterone deficiency on brain development (Carsote et al, 2016 , p. 80) IV.b. Psychological evaluation The present case [of ovotesticular DSD] is an extremely rare one in that the external genitalia is nearly normal, and the patient (and his parents) has not been in doubt about any sexual abnormality until a progressive breast enlargement occurred.…”

“…Only in a few occasions, a brief allusion was made to the patient’s view (Adrião et al, 2020 ; Hunter et al, 2016 ). Carsote and colleagues (Carsote et al, 2016 ), for example, draw attention to what they call a very rare case of a Caucasian man of 46 with DSD. They report about the patient’s absent sexual life, but only refer to the possible biological causes of this lack of interest rather than to his lived experience (see Table 8 , IV.a).…”

“…The study of Lepais and colleagues criticized the new DSD classification system for not taking into account histological anomalies (Lepais et al, 2016). Five studies used a term derived from intersex: intersexuality (Carsote et al, 2016;Mazen, 2017), intersex variation (Rich et al, 2016), intersex condition (Raveendran et al, 2019) or intersex disorder (Chowdhury et al, 2018;Raveenthiran, 2017;Teklu et al, 2016), not in the sense of an identity to be proud of, but rather as a more outdated medical concept for physical sex ambiguities. One paper (Roen et al, 2018) expressed its critique on the term "disorder" by placing it between hyphens.…”

Testicular regression syndrome and severe psychiatric disorder - a rare association preventing the optimal management of the endocrine condition

“…Untreated longstanding hypogonadism can lead to significant morbidity (cardiovascular events, bone loss, diabetes mellitus, metabolic syndrome) and increased mortality (21). Peak bone mass is severely affected if the hypogonadism occurs during puberty and is left untreated (22).…”