Primary gonadal failure

Ladjouze, Asmahane; Donaldson, Malcolm

doi:10.1016/j.beem.2019.101295

Cited by 15 publications

(21 citation statements)

References 149 publications

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“…Gonadal differentiation failure is known as gonadal dysgenesis and results in primary hypogonadism. Testicular dysgenesis drives to incomplete virilization, and the condition is known as dysgenetic DSD (11,14,23). According to the gene defect and probably the timing of its abnormal expression, variable degrees of dysgenesis will result, thus eliciting variable compromise of endocrine and paracrine secretion of androgens and AMH.…”

Section: Dsd: Abnormal Fetal Sex Differentiationmentioning

confidence: 99%

Male Hypogonadism and Disorders of Sex Development

2020

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Disorders of Sex Development (DSD) are congenital anomalies in which there is a discordance between chromosomal, genetic, gonadal, and/or internal/external genital sex. In XY individuals, the process of fetal sex differentiation can be disrupted at the stage of gonadal differentiation, resulting in gonadal dysgenesis, a form of early fetal-onset primary hypogonadism characterized by insufficient androgen and anti-Müllerian hormone (AMH) production, which leads to the development of ambiguous or female genitalia. The process of sex differentiation can also be disrupted at the stage of genital differentiation, due to isolated defects in androgen or AMH secretion, but not both. These are forms of fetal-onset hypogonadism with dissociated gonadal dysfunction. In this review, we present a perspective on impaired testicular endocrine function, i.e., fetal-onset male hypogonadism, resulting in incomplete virilization at birth.

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Section: Dsd: Abnormal Fetal Sex Differentiationmentioning

confidence: 99%

Male Hypogonadism and Disorders of Sex Development

2020

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“…Serum AMH is undetectable ( 35 , 36 ) (i.e., even lower than in 46,XX girls). This condition, known as pure (or complete) gonadal dysgenesis or Swyer syndrome, is the complete form of early fetal-onset primary gonadal failure ( 37 , 38 ) and is sometimes labeled “sex reversal” although gonads are represented by streaks, not ovaries.…”

Section: The 46xy Child With Dsdmentioning

confidence: 99%

What Does AMH Tell Us in Pediatric Disorders of Sex Development?

Josso

Rey

2020

Front. Endocrinol.

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Disorders of sex development (DSD) are conditions where genetic, gonadal, and/or internal/external genital sexes are discordant. In many cases, serum testosterone determination is insufficient for the differential diagnosis. Anti-Müllerian hormone (AMH), a glycoprotein hormone produced in large amounts by immature testicular Sertoli cells, may be an extremely helpful parameter. In undervirilized 46,XY DSD, AMH is low in gonadal dysgenesis while it is normal or high in androgen insensitivity and androgen synthesis defects. Virilization of a 46,XX newborn indicates androgen action during fetal development, either from testicular tissue or from the adrenals or placenta. Recognizing congenital adrenal hyperplasia is usually quite easy, but other conditions may be more difficult to identify. In 46,XX newborns, serum AMH measurement can easily detect the existence of testicular tissue, leading to the diagnosis of ovotesticular DSD. In sex chromosomal DSD, where the gonads are more or less dysgenetic, AMH levels are indicative of the amount of functioning testicular tissue. Finally, in boys with a persistent Müllerian duct syndrome, undetectable or very low serum AMH suggests a mutation of the AMH gene, whereas normal AMH levels orient toward a mutation of the AMH receptor.

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“…In primary hypogonadism, usually referred to as hypergonadotropic hypogonadism, the defect is primarily testicular. It may be congenital and exist from early fetal life or occur in later fetal life or after birth at any stage of development (Ladjouze & Donaldson, 2019). It may present with whole gonadal dysfunction, that is, Leydig, Sertoli, and germ cells are concomitantly affected, or with an initial cell-specific dysfunction (Table 1).…”

Section: Primary Hypogonadismmentioning

confidence: 99%

Androgen Treatment in Adolescent Males With Hypogonadism

Rey

Grinspon

2020

Am J Mens Health

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During adolescence, androgens are responsible for the development of secondary sexual characteristics, pubertal growth, and the anabolic effects on bone and muscle mass. Testosterone is the most abundant testicular androgen, but some effects are mediated by its conversion to the more potent androgen dihydrotestosterone (DHT) or to estradiol. Androgen deficiency, requiring replacement therapy, may occur due to a primary testicular failure or secondary to a hypothalamic–pituitary disorder. A very frequent condition characterized by a late activation of the gonadal axis that may also need androgen treatment is constitutional delay of puberty. Of the several testosterone or DHT formulations commercially available, very few are employed, and none is marketed for its use in adolescents. The most frequently used androgen therapy is based on the intramuscular administration of testosterone enanthate or cypionate every 3 to 4 weeks, with initially low doses. These are progressively increased during several months or years, in order to mimic the physiology of puberty, until adult doses are attained. Scarce experience exists with oral or transdermal formulations. Preparations containing DHT, which are not widely available, are preferred in specific conditions. Oxandrolone, a non-aromatizable drug with higher anabolic than androgenic effects, has been used in adolescents with preserved testosterone production, like Klinefelter syndrome, with positive effects on cardiometabolic health and visual, motor, and psychosocial functions. The usual protocols applied for androgen therapy in boys and adolescents are discussed.

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Primary gonadal failure

Cited by 15 publications

References 149 publications

Male Hypogonadism and Disorders of Sex Development

Male Hypogonadism and Disorders of Sex Development

What Does AMH Tell Us in Pediatric Disorders of Sex Development?

Androgen Treatment in Adolescent Males With Hypogonadism

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