Time Course of the Serum Gonadotropin Surge, Inhibins, and Anti-Müllerian Hormone in Normal Newborn Males during the First Month of Life

Bergadá, Ignacio; Milani, C; Bedecarrás, Patricia; Andreone, Luz; Ropelato, María Gabriela; Gottlieb, Silvia; Bergadá, C; Campo, Stella; Rey, Rodolfo

doi:10.1210/jc.2006-1079

Cited by 198 publications

(184 citation statements)

References 47 publications

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“…This could be due to differences in hormone levels according to different assay platforms (23). Nevertheless, the reported levels of T in the control infants in the two KS studies were much higher (4-20 nmol/l (5th-95th percentiles); (14, 15)) than reported by any other study (2,3,5,(24)(25)(26)(27)(28), including this study.…”

Section: Discussioncontrasting

confidence: 69%

High normal testosterone levels in infants with non-mosaic Klinefelter’s syndrome

et al. 2007

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Objective: Klinefelter's syndrome (KS) is associated with hypergonadotrophic hypogonadism in adulthood. However, limited information exists about the age at which hypogonadism occurs. The hypothalamic-pituitary-gonadal (HPG) axis is transiently activated during the first months of life, offering the opportunity to study testicular function by spontaneous, basal hormone levels. The aim of this study was to evaluate the HPG axis in KS infants. Design: Cross-sectional study. Methods: Ten KS infants aged 3.1 months (range 1.8-3.8) and 613 healthy controls aged 3.0 months (range 2.0-4.5). Serum levels of total and free testosterone (T), LH, FSH, inhibin B and sex hormonebinding globulin (SHBG) were determined. Results: KS infants had significantly higher concentrations of total T (5.0 (2.2-11.2) vs 3.4 (0.7-8.3) nmol/l, PZ0.02), free T (31.6 (18.2-61.8) vs 22.1 (4.3-48.4) pmol/l, PZ0.01), LH (3.3 (1.3-4.6) vs 1.7 (0.6-4.3) IU/l, PZ0.005) and FSH (1.7 (1.1-4.1) vs 1.2 (0.4-3.0) IU/l, PZ0.007) than controls. SHBG and inhibin B did not differ from controls. LH/T and LH/free T ratios were normal, whereas the FSH/inhibin B ratio was elevated (6.5 (2.7-16.9) vs 3.0 (0.78-11.4), PZ0.005) when compared to controls. The majority of KS infants had normal bivariate hormonal combinations. Conclusion: We found increased FSH/inhibin B ratio as a possible sign of Sertoli cell dysfunction. However, serum levels of T were high normal suggesting an altered pituitary-gonadal set point. European Journal of Endocrinology 157 345-350

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Section: Discussioncontrasting

confidence: 69%

High normal testosterone levels in infants with non-mosaic Klinefelter’s syndrome

et al. 2007

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“…These cases can be confirmed by hormonal investigations if done before the age of 6 months -the only period of childhood during which testosterone and gonadotropin deficiencies can be documented (20)(21)(22)(23). Indeed, given the 'physiological' gonadotropin deficiency characteristic of childhood after the sixth month of life, the diagnosis can only be suspected on the basis of cryptorchidism and/or micropenis, sometimes associated with signs pointing to a particular cause.…”

Section: Clinical Presentationmentioning

confidence: 97%

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships

Brioude

Bouligand

Trabado

et al. 2010

European Journal of Endocrinology

102

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Congenital hypogonadotropic hypogonadism (CHH) results from abnormal gonadotropin secretion, and it is characterized by impaired pubertal development. CHH is caused by defective GNRH release, or by a gonadotrope cell dysfunction in the pituitary. Identification of genetic abnormalities related to CHH has provided major insights into the pathways critical for the development, maturation, and function of the reproductive axis. Mutations in five genes have been found specifically in Kallmann's syndrome, a disorder in which CHH is related to abnormal GNRH neuron ontogenesis and is associated with anosmia or hyposmia.In combined pituitary hormone deficiency or in complex syndromic CHH in which gonadotropin deficiency is either incidental or only one aspect of a more complex endocrine disorder or a nonendocrine disorder, other mutations affecting GNRH and/or gonadotropin secretion have been reported.Often, the CHH phenotype is tightly linked to an isolated deficiency of gonadotropin secretion. These patients, who have no associated signs or hormone deficiencies independent of the deficiency in gonadotropin and sex steroids, have isolated CHH. In some familial cases, they are due to genetic alterations affecting GNRH secretion (mutations in GNRH1, GPR54/KISS1R and TAC3 and TACR3) or the GNRH sensitivity of the gonadotropic cells (GNRHR). A minority of patients with Kallmann's syndrome or a syndromic form of CHH may also appear to have isolated CHH, but close clinical, familial, and genetic studies can reorient the diagnosis, which is important for genetic counseling in the context of assisted reproductive medicine.This review focuses on published cases of isolated CHH, its clinical and endocrine features, genetic causes, and genotype-phenotype relationships.

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“…22,23 Usually, LH-induced serum testosterone concentrations surge during the fi rst few months of life-a so-called mini-puberty. 24,25 This profi le, however, cannot be used to diagnose complete androgen insensitivity syndrome in many infants, although serum testosterone concentrations do increase appropriately after stimulation with human chorionic gonadotropin. 22 Infants with partial androgen insensitivity syndrome have a more responsive pattern of LH and testosterone, both basally and after stimulation with human chorionic gonadotropin.…”

Section: Endocrine Featuresmentioning

confidence: 99%

“…Serum antimüllerian hormone concentrations also rise in the neonatal period and are sexually dimorphic. 24,26,27 Serum antimüllerian hormone measurement not only suggests the presence of testes in complete androgen insensitivity syndrome, but also that concentrations are higher in infants with the syndrome than in male infants. 28 during the fetal and neonatal stages of testis development.…”

Section: Endocrine Featuresmentioning

confidence: 99%

Androgen Insensitivity Syndrome (AIS)

2016

Encyclopedia of Cancer

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Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concen trations of androgens. Pathogenesis is the result of mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated androgen receptor-a transcription factor and member of the nuclear receptor superfamily. This Seminar describes the clinical manifestations of androgen insensitivity syndrome from infancy to adulthood, reviews the mechanism of androgen action, and shows examples of how mutations of the androgen receptor gene cause the syndrome. Management of androgen insensitivity syndrome should be undertaken by a multidisciplinary team and include gonadectomy to avoid gonad tumours in later life, appropriate sex-hormone replacement at puberty and beyond, and an emphasis on openness in disclosure.

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Time Course of the Serum Gonadotropin Surge, Inhibins, and Anti-Müllerian Hormone in Normal Newborn Males during the First Month of Life

Abstract: Sertoli cell markers AMH and inhibin B are the earliest useful markers indicating the existence of normal testicular tissue.

Cited by 198 publications

References 47 publications

High normal testosterone levels in infants with non-mosaic Klinefelter’s syndrome

High normal testosterone levels in infants with non-mosaic Klinefelter’s syndrome

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships

Androgen Insensitivity Syndrome (AIS)

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