Pituitary deficiency and lack of gonads in an XY pseudohermaphrodite with beta 39/lepore haemoglobinopathy.
We describe the occurrence of hypothyroidism and hypogonadotropic hypogonadism in an XY pseudohermaphrodite subject affected by beta-thalassemia. The patient, reared as female, diagnosed at 14 months of age as having a beta 39/Lepore hemoglobinopathy, treated with multiple transfusion therapy, was referred at age of 15 years because of delayed puberty. Complete endocrine evaluation showed low levels, both basal and after combined LHRH-TRH and hCG stimuli, of FSH, LH, TSH, estradiol (E2), testosterone (T), progesterone (P), androstenedione (A), and FT4 levels, and normal PRL, cortisol, 17OHP and ACTH levels. Imaging studies (ultrasound, magnetic resonance, radioisotope scanning and gonadal vessels phlebography) did not show internal genitalia and gonads. Karyotype resulted 46,XY. PCR amplification of the SRY gene confirmed the presence of the Y chromosome. Female genitalia without uterus in a subject with Y chromosome SRY gene, and no detectable testes indicate a condition of male pseudohermaphroditism associated with testicular regression. Low gonadotropin and sex steroid levels are suggestive of combined acquired hypothalamic-pituitary and gonadal impairment, due to iron deposition in both organs. We cannot exclude congenital failure of testosterone synthesis and action in this case, because lack of gonads is an unusual finding in thalassemic hypogonadic subjects.
Saviano
A
A
XXIX Divisione di Pediatria, Ospedale Cardarelli, Naples, Italy.
Filosa
A
A
Pasquali
D
D
Lamba
M
M
Siciliani
M C
MC
Rinaldi
M M
MM
Bellastella
A
A
Sinisi
A A
AA
D000293:Adolescent; D012734:Disorders of Sex Development / Q000150:complications*; D012739:Gonadal Steroid Hormones / Q000097:blood; D007987:Gonadotropin-Releasing Hormone; D006065:Gonadotropins, Pituitary / Q000097:blood; D006453:Hemoglobinopathies / Q000150:complications*; D006455:Hemoglobins, Abnormal; D006801:Humans; D007006:Hypogonadism / Q000150:complications*; D007037:Hypothyroidism / Q000150:complications*; D007621:Karyotyping; D008297:Male; D010900:Pituitary Diseases / Q000150:complications; D011628:Puberty, Delayed; D013963:Thyroid Hormones / Q000097:blood; D013973:Thyrotropin-Releasing Hormone; D017086:beta-Thalassemia / Q000150:complications*
D012739:Gonadal Steroid Hormones; D006065:Gonadotropins, Pituitary; D006455:Hemoglobins, Abnormal; D013963:Thyroid Hormones; D007987:Gonadotropin-Releasing Hormone; D013973:Thyrotropin-Releasing Hormone; C037659:hemoglobin Lepore