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.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
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Department of Medicine, Holbæk Hospital, Holbæk, Denmark
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Institute of Clinical Research, University of Southern Denmark, Odense, Denmark
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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
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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.
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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
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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
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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
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Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden
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Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden
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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
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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
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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
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
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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
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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
