Endocrine Abstracts (2010) 21 P64

A man with short stature and absent testis

Prashant Singh, Pat Pickett, Adwin Rooproy, Probal Moulik & Andrew Macleod


The Hummingbird Diabetes Centre, Royal Shrewsbury Hospital, Shrewbury, UK.


A 63-year-old phenotypic male presented with absent testis and enlarged adrenal glands. He had attended the urology clinic for persistent microscopic haematuria. He was found to have an empty scrotum and hypospadias. The patient recalled having genital surgery in childhood but could not recall any endocrine assessment. He was taller than his peers in early childhood but stopped growing after age 13 years. He described himself as ‘potent’. He was unmarried and did not have any children.

He was 1.49 m tall and had an empty scrotal sac, small penis and hypospadias. Endocrinological evaluation is summarized in the Table. Thirty minutes after an i.v. injection of 250 μg synacthen his cortisol went from 359 to 375 nmol/l. Urinary androgen profile was consistent with a diagnosis of congenital adrenal hyperplasia secondary to 21 hydroxylase deficiency. Ultrasound scan and magnetic resonance study failed to identify testis in abdomen or inguinal canal but both adrenal glands were enlarged.

Congenital adrenal hyperplasia is a recognized cause of short stature and genital abnormalities, however, this man presented unusually late in life. His adrenal glands seem to be his only source of androgens. Despite an inadequate cortisol response to synacthen, he was able to withstand infections and surgery without any reported problems.

His current needs are glucocorticoid replacement and androgen replacement as his adrenal glands are the sole source of his testosterone.

Table 1 Patient’s endocrine profile.
HormoneLevelsReference range
Testosterone22.2 nmol/l9.9–27.8
FSH1361.0–11.0
LH41.61.0–8.0
ACTH34 ng/ml<46
Aldosterone532 pmol/l28–445
Plasma renin activity16.39 nmol/l per h0.39–2.03
17 Hydroxyprogesterone>300 nmol/l0.9–4.1
DHEAS sulphate17.4 μmol/l1.1–7.9
D4-Androstenedione>34.9

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