Session: MON 631-640-Pediatric Endocrinology Case Reports: Disorders of Sexual Differentiation
Poster Board MON-633
CGD (Female phenotype, female gonadal remnant, no defects in the sequence of SRY, NR5A1 or SOX): FSH25.56±25.75UI/L; LH6.94±4.26UI/L; FSH/LH ratio 8.69±5.27; testosterone 0.19±0.18nmol/L.
TRS (Male phenotype, no detectable testes with ultrasound and laparoscopic exams, no testosterone increases after the GnRH test) We followed the patient up to 3.4 years, observing a persistence of high basal FSH and LH levels, with undetectable testosterone. Mean FSH96.93±16.58UI/L; LH6,97±3.04UI/L; FSH/LH15,49±5.46, testosterone<0.1nmol/L.
CAIS (Female phenotype, inguinal testes, nonsense mutations in the AR gene). The average hormonal values were FSH0,6 ±0.56nmol/L; LH0.55±0.64nmol/L; testosterone 0.49±0.13 nmol/L
PAIS (Male phenotype with ambiguous genitalia, defect present in the AR gene associated with partial AIS): FSH3.95±2,47UI/L; LH7.65±5.59UI/L; FSH/LH0.54±0.07; testosterone 700±834.9nmol/L.
Discussion: CGD and CAIS may represent a tough differential diagnosis, both of them have female phenotype and a 46,XY karyotype, but the presence of a functional androgen receptor in 46,XY CGD determines a female-like (1) post-natal hormonal rise (FSH/LH ratio>1). In CAIS no increase in FSH and LH is observed up to the 2nd year, probably due to lack of an androginal prenatal “priming” effect. Such, is confirmed from animal models (2).
TRS should be differentiated by PAIS with cryptorchidism and male phenotype: they have 46,XY karyotype, but while PAIS shows a male-like minipuberty with FSH/LH<1, TRS demonstrates a female-like ratio (FSH/LH>1) and a persistent increase of gonadotropins, due to the absence of inhibin B and testosterone negative feedback.
Conclusion: The analysis of FSH, LH and testosterone, from the 2nd week of life to the 2nd year, provides a substantial clue for the diagnosis of 46,XY DSDs. In presence of a suspect DSD, once the karyotype has been obtained, the infant should be evaluated for FSH, LH, testosterone in order to address the specific genetic analysis. The opportunity of targeting the genetic analysis according to the hormonal milieu, may allow us to save resources and provide patients with precocious management information.
Nothing to Disclose: AG, SA, IT, EM, GC, NAG
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