Progressive Central Puberty in a Toddler with Partial Androgen Insensitivity

Dougan, Grace C.; Uli, Naveen; Shulman, Dorothy I.

doi:10.1016/j.jpeds.2013.11.020

Cited by 5 publications

(3 citation statements)

References 8 publications

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“…No other similar case had been reported until very recently when a partial androgen insensitivity syndrome case presenting central precocious puberty from the first year of life after an initial period of T treatment to increase penis size was documented [Dougan et al 2014]. Given his partial condition, the patient underwent strong virilisation.…”

Section: Discussionmentioning

confidence: 89%

Complete Androgen Insensitivity Syndrome Associated with Male Gender Identity or Female Precocious Puberty in the Same Family

Vega

Fernández‐Cancio²,

Bernal³

et al. 2015

Sex Dev

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In 4 complete androgen insensitivity syndrome (CAIS) members of one family, 2 presented extreme and unusual clinical features: male gender identity disorder (case 1) and female precocious central puberty (case 2). The AR gene carried the mutation c.1752C>G, p.Phe584Leu. Gender dysphoria in CAIS may be considered as a true transgender and has been described in 3 other cases. Central precocious puberty has only been described in 1 case; Müllerian ducts in case 2 permitted menarche. Despite the common CAIS phenotype, there was a familial disparity for gender identity adequacy and timing and type of puberty.

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Section: Discussionmentioning

confidence: 89%

Complete Androgen Insensitivity Syndrome Associated with Male Gender Identity or Female Precocious Puberty in the Same Family

Vega

Fernández‐Cancio²,

Bernal³

et al. 2015

Sex Dev

View full text Add to dashboard Cite

show abstract

“…This is attractive for the management of PAIS, in light of the already high incidence of gynecomastia, due to elevations of estrogen (6,9). Second, topical DHT avoids inducing central precocious puberty, a known side effect of high-dose testosterone (8). A disadvantage of topical DHT therapy is cost, which in the New Zealand context, is not routinely funded by the public health system (although in the present cases, special approval has been obtained for publically funded access).…”

Section: Discussionmentioning

confidence: 99%

“…This treatment is limited by adverse effects of high-dose testosterone, including triggering precocious puberty, and aromatization of excess testosterone leading to gynecomastia from raised estradiol levels (8,9). Dihydrotestosterone (DHT) is a potent end metabolite of testosterone with avid affinity to AR, and is essential for the adequate development of the male external genitalia (1).…”

Section: Introductionmentioning

confidence: 99%