Absent or Delayed Adrenarche in Pit-1/POU1F1 Deficiency

Taha, Doris; Mullis, Primus Ε.; Ibáñez, Lourdes; Zegher, Francis de

doi:10.1159/000088793

Cited by 26 publications

(15 citation statements)

References 82 publications

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“…It is noteworthy that both patients presented delayed adrenarche and pubarche, as described previously in patients with PROP1 and PIT1 deficiencies, 40,41 suggesting that PROP1 ‐dependent factors contribute to normal adrenarche and pubarche development.…”

Section: Discussionsupporting

confidence: 76%

“…The clinical features associated with the hormonal deficiency in the patients harbouring the deletion of the entire gene are not different from those observed in patients with small deletions, indicating that the latter have no residual activity in vivo. 39 It is noteworthy that both patients presented delayed adrenarche and pubarche, as described previously in patients with PROP1 and PIT1 deficiencies, 40,41 suggesting that PROP1-dependent factors contribute to normal adrenarche and pubarche development.…”

Section: Discussionsupporting

confidence: 67%

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Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion

Abrão¹,

Leite

Carvalho³

et al. 2006

Clinical Endocrinology

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Section: Discussionsupporting

confidence: 76%

Section: Discussionsupporting

confidence: 67%

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion

Abrão¹,

Leite

Carvalho³

et al. 2006

Clinical Endocrinology

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“…Adrenal androgens peak earlier in women than men (61,70), but adrenarche is still considered to occur at the same age in each sex (23). Precocious and delayed adrenarche are also considered to reflect abnormally early-or late-childhood onset of adrenal androgen secretion (24,73), not differences in age at the peak as in adults. However adrenarche is defined, understanding ZR development and function in the rhesus monkey will provide valuable insights into the regulation of adrenal androgen secretion in humans.…”

Section: Discussionmentioning

confidence: 99%

Adrenal androgen concentrations increase during infancy in male rhesus macaques (Macaca mulatta)

Conley

Plant

Abbott

et al. 2011

American Journal of Physiology-Endocrinology and Metabolism

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Conley AJ, Plant TM, Abbott DH, Moeller BC, Stanley SD. Adrenal androgen concentrations increase during infancy in male rhesus macaques (Macaca mulatta). Am J Physiol Endocrinol Metab 301: E1229 -E1235, 2011. First published September 6, 2011 doi:10.1152/ajpendo.00200.2011.-This study investigated adrenal androgens (AA), gonadotropins, and cortisol in castrated and gonadintact male rhesus macaques from birth through infancy. Blood samples were collected longitudinally from castrated (n ϭ 6; weekly, 1-40 wk) and intact (n ϭ 4; every other week, 1-17 wk) males. Plasma concentrations of AA were determined by liquid chromatography-tandem mass spectrometry, and plasma concentrations of cortisol and gonadotropins were determined by RIA. Dehydroepiandrosterone sulfate (DHEAS) concentrations increased almost threefold (to 8 wk), dehydroepiandrosterone (DHEA) increased more than eightfold (to 11 wk), and androstenedione doubled (to 15 wk) in five castrated infant males and declined continuously thereafter. A sixth castrated male had markedly different temporal patterns and concentrations (many times more than 2 SDs from the cohort mean) of AA and gonadotropins from first sampling (3 wk) and was excluded from analysis. Cortisol increased over 16 wk but correlated poorly with DHEAS. Luteinizing and follicle-stimulating hormones increased to peaks at 3 and 7 wk, respectively. Testis-intact males exhibited similar profiles, but with earlier peaks of DHEAS (5 wk) and DHEA and androstenedione (7 wk). Peak concentrations of DHEAS were lower and those of DHEA and androstenedione were higher in intact than castrated infants. Testosterone was undetectable in castrated males and Ͼ0.5 ng/ml in intact males but was not correlated with DHEA or DHEAS. These are the first data documenting a transient increase in AA secretion during infancy in an Old World primate and are consistent with the previously documented time course of zona reticularis development that accompanies increases in androgen synthetic capacity of the adrenal. The rhesus is a promising model for androgen secretion from the human adrenal cortex. adrenarche; human; nonhuman primate; adrenal cortex; zona reticularis; dehydroepiandrosterone; dehydroepiandrosterone sulfate; castrate; prepubertal; neonate; infant; longitudinal sampling; cortisol THE ADRENAL CORTEX SYNTHESIZES the most abundant circulating steroid in the human body, dehydroepiandrosterone sulfate (DHEAS), as well as its unconjugated form (DHEA), which are collectively referred to as adrenal androgens. Although they exhibit little or no androgenic activity themselves, DHEAS and DHEA can be used as substrates for bioactive sex steroid synthesis in tissues and cells with the appropriate complement of enzymes (27). Consequently, adrenal androgen secretion remains an important source of precursors for local estrogen production when gonadal sources are absent or suppressed (28). Diseases promoted by sex steroids, such as prostate and breast cancers, are therefore more difficult to control because of adrenal DHEAS...

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“…A lack of adrenarche has been observed in patients with familial glucocorticoid deficiency due to disruption of ACTH signalling (35). However, in patients with combined pituitary hormone deficiency due to Pit1 (POU1F1) mutations, who are characterised by normal ACTH and cortisol secretion and spontaneous onset and progression of puberty, the absence or delay of adrenarche and pubarche has been documented (36). Thus, ACTH has a permissive effect on the initiation of adrenal androgen production, but its presence alone does not suffice.…”

Section: Adrenarche Pubarche and Pubertymentioning

confidence: 99%

Premature adrenarche: novel lessons from early onset androgen excess

Idkowiak

Lavery

Dhir

et al. 2011

European Journal of Endocrinology

110

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Adrenarche reflects the maturation of the adrenal zona reticularis resulting in increased secretion of the adrenal androgen precursor DHEA and its sulphate ester DHEAS. Premature adrenarche (PA) is defined by increased levels of DHEA and DHEAS before the age of 8 years in girls and 9 years in boys and the concurrent presence of signs of androgen action including adult-type body odour, oily skin and hair and pubic hair growth. PA is distinct from precocious puberty, which manifests with the development of secondary sexual characteristics including testicular growth and breast development. Idiopathic PA (IPA) has long been considered an extreme of normal variation, but emerging evidence links IPA to an increased risk of developing the metabolic syndrome (MS) and thus ultimately cardiovascular morbidity. Areas of controversy include the question whether IPA in girls is associated with a higher rate of progression to the polycystic ovary syndrome (PCOS) and whether low birth weight increases the risk of developing IPA. The recent discoveries of two novel monogenic causes of early onset androgen excess, apparent cortisone reductase deficiency and apparent DHEA sulphotransferase deficiency, support the notion that PA may represent a forerunner condition for PCOS. Future research including carefully designed longitudinal studies is required to address the apparent link between early onset androgen excess and the development of insulin resistance and the MS.

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Absent or Delayed Adrenarche in Pit-1/POU1F1 Deficiency

Cited by 26 publications

References 82 publications

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion

Adrenal androgen concentrations increase during infancy in male rhesus macaques (Macaca mulatta)

Premature adrenarche: novel lessons from early onset androgen excess

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