Search for other papers by Thozhukat Sathyapalan in
Google Scholar
PubMed
Search for other papers by Anne-Marie Coady in
Google Scholar
PubMed
Search for other papers by Eric S Kilpatrick in
Google Scholar
PubMed
Search for other papers by Stephen L Atkin in
Google Scholar
PubMed
.7 92.6 ± 3.2 0.67 0.03 ± 0.02 0.12 Testosterone (nmol/L) 4.1 ± 0.2 2.9 ± 0.1 2.7 ± 0.1 <0.01 −24.6 ± 2.6 <0.01 4.4 ± 0.2 4.3 ± 0.2 4.2 ± 0.8 0.73 −0.1 ± 1.5 0.18 SHBG (nmol/L) 31.1 ± 1.0 35.3 ± 1.2 36
Institute of Clinical Research, University of Southern Denmark, Odense, Denmark
Search for other papers by Dorte Glintborg in
Google Scholar
PubMed
Search for other papers by Katrine Hass Rubin in
Google Scholar
PubMed
Search for other papers by Mads Nybo in
Google Scholar
PubMed
Department of Medicine, Holbæk Hospital, Holbæk, Denmark
Search for other papers by Bo Abrahamsen in
Google Scholar
PubMed
Institute of Clinical Research, University of Southern Denmark, Odense, Denmark
Search for other papers by Marianne Andersen in
Google Scholar
PubMed
analyzed at Odense University hospital. We have published details regarding assays recently ( 10 , 16 ). Serum total testosterone and SHBG were analyzed using a specific RIA after extraction as previously described ( 18 ). This method shows close
Search for other papers by Rohit Barnabas in
Google Scholar
PubMed
Search for other papers by Swati Jadhav in
Google Scholar
PubMed
Search for other papers by Anurag Ranjan Lila in
Google Scholar
PubMed
Search for other papers by Sirisha Kusuma Boddu in
Google Scholar
PubMed
Search for other papers by Saba Samad Memon in
Google Scholar
PubMed
Search for other papers by Sneha Arya in
Google Scholar
PubMed
Search for other papers by Samiksha Chandrashekhar Hegishte in
Google Scholar
PubMed
Search for other papers by Manjiri Karlekar in
Google Scholar
PubMed
Search for other papers by Virendra A Patil in
Google Scholar
PubMed
Search for other papers by Vijaya Sarathi in
Google Scholar
PubMed
Search for other papers by Nalini S Shah in
Google Scholar
PubMed
Search for other papers by Tushar Bandgar in
Google Scholar
PubMed
Background: The data on Leydig cell hypoplasia (LCH) resulting from biallelic Luteinizing hormone/chorionic gonadotropin receptor (LHCGR) inactivating variants is limited to case series.
Methods: We aim to describe our patients and perform systematic review of the patients with LHCGR inactivating variants in the literature. Detailed phenotype and genotype data of 3 patients from our centre and 85 (46,XY: 67; 46,XX: 18) patients from 59 families with LHCGR-inactivating variants from literature were described.
Results: Three 46,XY patients(age 6-18 years) from our centre, with two reared as females, had two novel variants in LHCGR. Systematic review (including our patients) revealed 72 variants in 88 patients. 46,XY patients (n=70, 56 raised as females) presented with pubertal delay (n=41) or atypical genitalia(n=17). Sinnecker score ≥3 (suggesting antenatal hCG inaction) was seen in 80% (56/70), and hCG-stimulated testosterone was low (<1.1 ng/ml) in 77.4% (24/31), whereas puberty/postpubertal age, high LH (97.6%, 41/42) and low (<1.0 ng/ml) basal testosterone (94.9%, 37/39) was observed in most. FSH was elevated in 21/51 of these patients. Variants with <10% receptor function were exclusively seen in cohorts with Sinnecker 4/5 (10/15 vs. 0/5, p=0.033). 46,XX patients (n=18) presented with oligo/amenorrhea and/or anovulatory infertility and had polycystic ovaries (7/9) with median LH of 10 IU/L (1.2-38).
Conclusion: In summary, this study comprehensively characterizes LHCGR variants, revealing genotype-phenotype correlations and informing clinical management of LCH. In 46,XY LCH patients, pubertal LH inaction is uniform with variable severity of antenatal hCG inaction. Few mutant LHCGR have differential action for LH and hCG.
Search for other papers by Willem de Ronde in
Google Scholar
PubMed
Search for other papers by Diederik L Smit in
Google Scholar
PubMed
experience, we discuss the management of steroid abuse and give treatment recommendations for the clinical endocrinologist. What are AAS? AAS comprise a group of compounds that are structurally similar to testosterone and have similar actions when
Search for other papers by Alessandra Gambineri in
Google Scholar
PubMed
Search for other papers by Carla Pelusi in
Google Scholar
PubMed
androgens, in both sexes, there are different synthesis pathways; a classic pathway where testosterone is synthesized directly in testicular Leydig cells in men and ovarian theca cells in women. Androgens are parallel produced from Δ5- and Δ4-precursors, and
Search for other papers by Miranda Scharff in
Google Scholar
PubMed
Search for other papers by Chantal Maria Wiepjes in
Google Scholar
PubMed
Search for other papers by Maartje Klaver in
Google Scholar
PubMed
Search for other papers by Thomas Schreiner in
Google Scholar
PubMed
Search for other papers by Guy T’Sjoen in
Google Scholar
PubMed
Search for other papers by Martin den Heijer in
Google Scholar
PubMed
oral estradiol valerate a day or 100 µg/24 h estradiol patch twice a week. People older than 40 years were advised to be treated with transdermal estrogens, because of thrombosis risk ( 12 ). Transmen were treated with testosterone. They could choose
Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden
Institute of Molecular Biology and Biotechnology, FORTH, Heraklion, Greece
Search for other papers by Christos Tsatsanis in
Google Scholar
PubMed
Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden
Search for other papers by Angel Elenkov in
Google Scholar
PubMed
Search for other papers by Irene Leijonhufvud in
Google Scholar
PubMed
Search for other papers by Katerina Vaporidi in
Google Scholar
PubMed
Search for other papers by Åsa Tivesten in
Google Scholar
PubMed
Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden
Search for other papers by Aleksander Giwercman in
Google Scholar
PubMed
to be regulated by sex hormones. BAFF suppression by testosterone has been demonstrated in animal studies and indirectly in humans when comparing men with high and low testosterone levels ( 4 ). In contrast, estrogens have been demonstrated to induce
Search for other papers by Rebeca Esquivel-Zuniga in
Google Scholar
PubMed
Search for other papers by Alan D Rogol in
Google Scholar
PubMed
concentrations of total and free testosterone. Moreover, those males with type 2 diabetes mellitus (T2DM) and obesity or other components of the metabolic syndrome are more likely to have diminished testosterone levels than those with isolated obesity ( 19
Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Search for other papers by Andre Madsen in
Google Scholar
PubMed
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Anders Juul in
Google Scholar
PubMed
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Search for other papers by Lise Aksglaede in
Google Scholar
PubMed
the study period as previously described ( 19 ). Serum concentrations of total testosterone, dehydroepiandrosterone sulfate (DHEAS), 17-hydroxyprogesterone (17-OHP), androstenedione (4A), SHBG, follicle-stimulating hormone (FSH), luteinizing hormone
Search for other papers by Yael Sofer in
Google Scholar
PubMed
Search for other papers by Nava Nevo in
Google Scholar
PubMed
Search for other papers by Michal Vechoropoulos in
Google Scholar
PubMed
Search for other papers by Gabi Shefer in
Google Scholar
PubMed
Search for other papers by Etty Osher in
Google Scholar
PubMed
Search for other papers by Nathan Landis in
Google Scholar
PubMed
Search for other papers by Karen Tordjman in
Google Scholar
PubMed
Search for other papers by Geoffrey L Hammond in
Google Scholar
PubMed
Search for other papers by Naftali Stern in
Google Scholar
PubMed
glucose, insulin, lipids, liver enzymes and testosterone levels. A glucose tolerance test (GTT) was done after an overnight fast with an intra-peritoneal injection of glucose (2 mg/kg). Glucose was measured at the following time points: 0, 15, 30, 60, 90