Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development

Bertelloni, Silvano; Russo, Gianni; Baroncelli, Giampiero I.

doi:10.1159/000481552

Cited by 34 publications

(26 citation statements)

References 48 publications

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“…Therefore, the measurement of basal levels of these hormones during this period is generally not useful for evaluation of the HPT axis function. Endocrine stimulation tests, including hCG stimulation test and GnRH test, are required for the assessment of presence of a testis and the function of prepubertal Leydig cells therein (179). In contrast, serum inhibin B and AMH levels are still detectable during this period in normal boys, which reflects the function of Sertoli cells (57, 180).…”

Section: Prepubertal Periodmentioning

confidence: 99%

“…Pituitary gonadotroph function can be assessed by GnRH [also called luteinizing hormone-releasing hormone (LHRH)] stimulation test, and Leydig cell function can be evaluated by hCG stimulation test (179,181). hCG is a glycoprotein hormone primarily produced by the placenta (179). It has a similar structure to LH and shares the same receptor as LH (LHCG receptor; LHCGR) on the Leydig cells.…”

Section: Prepubertal Periodmentioning

confidence: 99%

“…Compared to LH, hCG has 24 additional amino acids at the carboxy-terminal end, which increases its biological effect, plus a sialic acid terminal on a carbohydrate chain makes its half-life longer. As a result, hCG can sustainably stimulate steroid hormone production and can be used to test Leydig cell steroidogenic capacity (179). GnRH upregulates GnRH receptors on gonadotrophs and the expression level of gonadotropin subunit genes in the pituitary (181).…”

Section: Prepubertal Periodmentioning

confidence: 99%

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Hypogonadism and Cryptorchidism

et al. 2020

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Congenital cryptorchidism (undescended testis) is one of the most common congenital urogenital malformations in boys. Prevalence of cryptorchidism at birth among boys born with normal birth weight ranges from 1.8 to 8.4%. Cryptorchidism is associated with a risk of low semen quality and an increased risk of testicular germ cell tumors. Testicular hormones, androgens and insulin-like peptide 3 (INSL3), have an essential role in the process of testicular descent from intra-abdominal position into the scrotum in fetal life. This explains the increased prevalence of cryptorchidism among boys with diseases or syndromes associated with congenitally decreased secretion or action of androgens, such as patients with congenital hypogonadism and partial androgen insensitivity syndrome. There is evidence to support that cryptorchidism is associated with decreased testicular hormone production later in life. It has been shown that cryptorchidism impairs long-term Sertoli cell function, but may also affect Leydig cells. Germ cell loss taking place in the cryptorchid testis is proportional to the duration of the condition, and therefore early orchiopexy to bring the testis into the scrotum is the standard treatment. However, the evidence for benefits of early orchiopexy for testicular endocrine function is controversial. The hormonal treatments using human chorionic gonadotropin (hCG) or gonadotropin-releasing hormone (GnRH) to induce testicular descent have low success rates, and therefore they are not recommended by the current guidelines for management of cryptorchidism. However, more research is needed to assess the effects of hormonal treatments during infancy on future male reproductive health.

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Section: Prepubertal Periodmentioning

confidence: 99%

Section: Prepubertal Periodmentioning

confidence: 99%

Section: Prepubertal Periodmentioning

confidence: 99%

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Hypogonadism and Cryptorchidism

et al. 2020

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“…Our sample comprised 19 pre-pubertal children with testicular 46,XY DSD, not gonadectomized, and proven normal testosterone secretion evaluated by conventional IA after uhCG stimulation test in childhood [total testosterone higher than 1.5 ng/mL (15,21)] or hormonal assessment done during mini-puberty (total testosterone higher than 1.5 ng/mL).…”

Section: Clinical Datamentioning

confidence: 99%

“…The human chorionic gonadotropin (hCG) stimulation test is performed to evaluate gonadal steroidogenic secretion (11,12,15). The hCG purified from pregnant women's urine (uhCG) has been used for this purpose, based on well-established protocols (15,16). A recent alternative for this test has been the use of hCG produced by recombinant DNA techniques (rhCG) (15,17,18).…”

Section: Introductionmentioning

confidence: 99%

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development

Oliveira

Longui

Guaragna-Filho

et al. 2020

Endocrine Connections

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Objective: Steroid measurement is a challenge in pediatric endocrinology. Currently, liquid chromatography with tandem mass spectrometry (LC-MS/MS) is considered a gold standard for this purpose. The aim of this study was to compare both LC-MS/MS and immunoassay (IA) for androgens before and after human recombinant chorionic gonadotropin (r-hCG) stimulus in children with 46,XY Disorders of Sex Development (DSD). Methods: Nineteen patients with 46,XY DSD were evaluated; all of them were prepubertal and non gonadectomized. Testosterone, dihydrotestosterone (DHT), dehydroepiandrosterone (DHEA) and androstenedione were measured by IA and LC-MS/MS before and 7 days after rhCG injection. The correlation between IA and LC-MS/MS was analysed by the intraclass correlation coefficient (ICC) and Spearman's rank correlation coefficient (SCC). For concordance analysis the Passing and Bablok (PB) regression and the Bland and Altman (BA) method were used. Results: Testosterone showed excellent correlation (ICC = 0.960 and SCC = 0.964); DHT showed insignificant and moderate correlations as indicated by ICC (0.222) and SCC (0.631), respectively; DHEA showed moderate correlation (ICC = 0.585 and SCC = 0.716); and androstenedione had poor and moderate correlations in ICC (0.363) and SCC (0.735), respectively. Using the PB method, all hormones showed a linear correlation, but proportional and systematic concordance errors were detected for androstenedione, systematic errors for testosterone and no errors for DHEA and DHT. By the BA method, there was a trend of IA to overestimate testosterone and androstenedione and underestimate DHEA and DHT when compared to LC-MS/MS. Conclusion: Traditional IA should be replaced by LC-MS/MS for the androgens measurement in prepubertal children whenever is possible.

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X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene

Esquiaveto‐Aun,

de Mello,

Guaragna

et al. 2024

American J of Med Genetics Pt A

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Adrenal hypoplasia congenita, attributed to NR0B1 pathogenic variants, accounts for more than 50% of the incidence of primary adrenal insufficiency in children. Although more than 250 different deleterious variations have been described, no genotype–phenotype correlation has been defined to date. We report a case of an adopted boy who reported the onset of an adrenal crisis at 2 weeks of age, requiring replacement therapy with mineralocorticoids and glucocorticoids for 4 months. For 3 years, he did well without treatment. At almost 4 years of age, the disorder was restarted. A long follow‐up showed the evolution of hypogonadotropic hypogonadism. Molecular studies on NR0B1 revealed a novel and deleterious deletion–insertion–inversion–deletion complex rearrangement sorted in the 5′‐3′ direction, which is described as follows: (1) deletion of the intergenic region (between TASL and NR0B1 genes) and 5′ region, (2) insertion of a sequence containing 37 bp at the junction of the intergenic region of the TASL gene and a part of exon 1 of the NR0B1 gene, (3) inversion of a part of exon 1, (4) deletion of the final portion of exon 1 and exon 2 and beginning of the 3′UTR region, (5) maintenance of part of the intergenic sequence (between genes MAGEB1 and NR0B1, telomeric sense), (6) large posterior deletion, in the same sense. The path to molecular diagnosis was challenging and involved several molecular biology techniques. Evaluating the breakpoints in our patient, we assumed that it was a nonrecurrent rearrangement that had not yet been described. It may involve a repair mechanism known as nonhomologous end‐joining (NHEJ), which joins two ends of DNA in an imprecise manner, generating an “information scar,” represented herein by the 37 bp insertion. In addition, the local Xp21 chromosome architecture with sequences capable of modifying the DNA structure could impact the formation of complex rearrangements.

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Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development

Cited by 34 publications

References 48 publications

Hypogonadism and Cryptorchidism

Hypogonadism and Cryptorchidism

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development

X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene

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