The role of anti-Mullerian and inhibin B hormones in the evaluation of 46,XY disorders of sex development

Hafez, Mona; Dayem, Soha M. Abd El; El-Mougy, Fatma; Atef, Abeer; Kandil, Manal E.; Galal, Ashraf; Hamid, Alaa A.

doi:10.1515/jpem-2013-0355

Cited by 14 publications

(22 citation statements)

References 13 publications

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“…Hypergonadotropic hypogonadism was not always present during the postnatal gonadotropin surge, indicating that FSH and LH have high specificity but low sensitivity to predict gonadal failure, as previously described [Morel et al, 2002]. It has been proposed that testosterone, anti-müllerian hormone, and inhibin B should be measured instead [Hafez et al, 2014]. Though detection of the latter two was not available in our service, low testosterone levels in all patients during minipuberty and impaired testosterone response to hCG stimulation without increase in testosterone precursors in most infants were suggestive of the diagnosis.…”

Section: Discussionmentioning

confidence: 79%

Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis

Andrade

Fabbri‐Scallet

Santos

et al. 2019

Sex Dev

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ated with testicular dysgenesis were found in 12 families. There were no significant differences regarding parental consanguinity, degree of external androgenization, gonadal location, histology, and function, and associated conditions. However, in the MGD group, the presence of a uterus, lower birth weight and length, and short stature were more often observed. Therefore, the use of histological features to classify PDG and MGD should be abandoned and replaced by classification based on karyotype.

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Section: Discussionmentioning

confidence: 79%

Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis

Andrade

Fabbri‐Scallet

Santos

et al. 2019

Sex Dev

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“…Therefore, one clinical implication of our normative model is its potential use as a reference for a healthy population in assessing the role of inhibin B as a pre-pubertal marker of Sertoli cell function. This has a number of potential clinical implications, including the assessment of functioning testicular tissue in hypogonadotrophic hypogonadism, anorchia and disorders of sexual development [ 2 , 31 ]. We have reported our experience in assessing inhibin B as a marker of gonadotoxicity in young males treated for malignancy in childhood [ 11 ], but the interpretation was limited by the absence of a normative model for inhibin B in childhood.…”

Section: Discussionmentioning

confidence: 99%

A Normative Model of Serum Inhibin B in Young Males

et al. 2016

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Inhibin B has been identified as a potential marker of Sertoli cell function in males. The aim of this study is to produce a normative model of serum inhibin B in males from birth to seventeen years. We used a well-defined search strategy to identify studies containing data that can contribute to a larger approximation of the healthy population. We combined data from four published studies (n = 709) and derived an internally validated model with high goodness-of-fit and normally distributed residuals. Our results show that inhibin B increases following birth to a post-natal peak of 270 pg/mL (IQR 210–335 pg/mL) and then decreases during childhood followed by a rise at around 8 years, peaking at a mean 305 pg/mL (IQR 240–445 pg/mL) at around age 17. Following this peak there is a slow decline to the standard mature adult normal range of 170 pg/mL (IQR 125–215 pg/mL). This normative model suggests that 35% of the variation in Inhibin B levels in young males is due to age alone, provides an age-specific reference range for inhibin B in the young healthy male population, and will be a powerful tool in evaluating the potential of inhibin B as a marker of Sertoli cell function in pre-pubertal boys.

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“…Like AMH, inhibin B is a useful serum marker for the existence of functional testicular tissue. A recent study in DSD patients that assessed cut-off levels for inhibin B to discriminate between the absence and presence of testicular tissue reported a positive predictive value of 86% and a negative predictive value of 90% for inhibin B levels <41.9 pg/mL [Hafez et al, 2014]. Serum inhibin B is low in patients with partial testicular dysgenesis ( Fig.…”

Section: Dysgenetic Dsdmentioning

confidence: 94%

“…In patients with dysgenetic DSD, serum AMH is low or undetectable ( Fig. 2 ), reflecting the number of [Rey et al, 1999;Josso et al, 2012;Lindhardt Johansen et al, 2013;Hafez et al, 2014]. Because of absent or insufficient AMH action during fetal life, these patients present with müllerian remnants.…”

Section: Dysgenetic Dsdmentioning

confidence: 99%

Importance of Serum Testicular Protein Hormone Measurement in the Assessment of Disorders of Sex Development

Freire

Grinspon

Rey

2017

Sex Dev

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Commonly known for testosterone secretion, the testes also produce the protein hormones anti-müllerian hormone (AMH), inhibin B, and insulin-like factor 3 (INSL3). AMH and inhibin B are secreted by Sertoli cells, whereas INSL3 is a Leydig cell product. AMH is involved in fetal sex differentiation and induces the regression of the anlagen of the uterus and fallopian tubes. INSL3 participates in fetal testicular descent. Serum testicular protein hormone assessment can be very useful and complementary to testosterone measurements in patients with DSD. AMH and inhibin B determination is extremely helpful during childhood, when basal testosterone is normally low. Serum AMH and inhibin B above the female range are indicative of the presence of testicular tissue, and their circulating levels reflect the amount of functional Sertoli cells. In DSD patients with normal male levels of AMH and inhibin B, the diagnosis of gonadal dysgenesis can be ruled out, and isolated androgen secretion deficiency or androgen insensitivity should be suspected. In externally virilized XY patients with persistent müllerian ducts, serum AMH levels determine the diagnosis to AMH deficiency or resistance. At pubertal age, inhibin B levels serve to predict spermatogenic development.

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The role of anti-Mullerian and inhibin B hormones in the evaluation of 46,XY disorders of sex development

Abstract: AMH and inhibin B are valuable, and reliable noninvasive parameters for the detection of functioning testicular tissues in prepubertal patients.

Cited by 14 publications

References 13 publications

Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis

Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis

A Normative Model of Serum Inhibin B in Young Males

Importance of Serum Testicular Protein Hormone Measurement in the Assessment of Disorders of Sex Development

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