Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17β-hydroxysteroid dehydrogenase 3 deficiency

Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

DOI

  1. A Biphasic Pattern of Reproductive Hormones in Healthy Female Infants -The COPENHAGEN Minipuberty Study

    Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

  2. Serum Testosterone Levels in 3-Month-Old Boys Predict Their Semen Quality as Young Adults

    Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

Vis graf over relationer

OBJECTIVES: 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiency results in insufficient biosynthesis of testosterone and consequently dihydrotestosterone. This is important for the fetal development of male genitalia. Thus, most 46,XY patients with 17β-HSD3 deficiency have a female appearance at birth and present with virilization at puberty. This study presents the differences in the clinical and hormonal data and analyses of gonadal characteristics in two siblings with 17β-HSD3 deficiency.

CASE PRESENTATION: Patient 1 presented with deepening of the voice and signs of virilization at puberty and increased serum levels of testosterone (T) of 10.9 nmol/L (2.9 SDS) and androstenedione (Δ4) of 27 nmol/L (3.3 SDS) were observed. The T/Δ4-ratio was 0.39. Patient 2 was clinically prepubertal at the time of diagnosis, but she also had increased levels of T at 1.97 nmol/L (2.9 SDS), Δ4 at 5 nmol/L (3.3 SDS), and the T/Δ4-ratio was 0.40, but without signs of virilization. Both siblings were diagnosed as homozygous for the splice-site mutation c.277+4A>T in intron 3 of HSD17B3. They were subsequently gonadectomized and treated with hormone replacement therapy. The gonadal histology was overall in accordance with pubertal status, although with a dysgenetic pattern in both patients, including Sertoli-cell-only tubules, few tubules containing germ cells, and presence of microliths.

CONCLUSIONS: Two siblings with 17β-HSD3 deficiency differed in pubertal development at the time of diagnosis and showed marked differences in their clinical presentation, hormonal profile, gonadal morphology and expression of cell lineage markers. Early diagnosis of 17β-HSD3 deficiency appears beneficial to ameliorate long-term consequences.

OriginalsprogEngelsk
TidsskriftJournal of pediatric endocrinology & metabolism : JPEM
Vol/bind35
Udgave nummer7
Sider (fra-til)953-961
Antal sider9
ISSN0334-018X
DOI
StatusUdgivet - 26 jul. 2022

Bibliografisk note

© 2022 Walter de Gruyter GmbH, Berlin/Boston.

ID: 79484371