Primary gonadal failure and precocious adrenarche in a boy with Prader-Labhart-Willi syndrome

Bz, Garty; Shuper, Avinoam; Mimouni, M.; Varsano, I; Kauli, Rivka

doi:10.1007/bf01377358

Cited by 15 publications

(7 citation statements)

References 17 publications

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“…However, some patients develop premature pubarche, but the mechanism is not fully understood (4,14). Premature activation of the adrenals or metabolic disturbances in adrenal androgen synthesis have both been discussed (14,15). Our patient showed high basal levels of DHEA-S with no remarkable increase in DHEA-S (including 17-OHP) concentrations after ACTH stimulation, as well as normal suppression of adrenal cortisol production after dexamethasone appli-cation.…”

Section: Discussionmentioning

confidence: 55%

Prader-Labhart-Willi syndrome with central precocious puberty and empty sella syndrome

Linnemann¹,

Schröder²,

Mix³

et al. 1999

SPAE

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Section: Discussionmentioning

confidence: 55%

Prader-Labhart-Willi syndrome with central precocious puberty and empty sella syndrome

Linnemann¹,

Schröder²,

Mix³

et al. 1999

SPAE

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“…This gonadal defect does not seem intrinsic to the syndrome [14,34]. This gonadal defect does not seem intrinsic to the syndrome [14,34].…”

Section: Discussionmentioning

confidence: 70%

“…Genital abnormalities are the rule in PWS, which can be identified early in males, but are difficult to observe in females [9,14,21,30]. According to Holm and Cassidy [18], hypogonadism is considered to be one of the eight major clinical diagnostic criteria of PWS in both sexes.…”

Section: Introductionmentioning

confidence: 99%

Hypogonadism and pubertal development in Prader-Willi syndrome

et al. 2003

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Genital abnormalities and disorders of pubertal development such as hypogonadism are common in Prader-Willi Syndrome (PWS). Depending on age, PWS patients present genital hypoplasia and delayed or incomplete gonadal maturation. Nevertheless, only a few evaluations have been made of these findings in this syndrome; in the cases previously reported the diagnosis of PWS has often been based only on clinical criteria and not confirmed by genetic analysis. In this paper we describe both external genital findings and spontaneous pubertal development in 84 patients aged from 2.1 to 35.4 (42 males, 42 females) affected by PWS. Diagnosis was made using the Holm and Cassidy criteria and was confirmed by genetic analysis (methylation test and/or FISH). We evaluated the presence of cryptorchidism, scrotal development, length of penis and volume of testis in males and outlook of labia minora and/or clitoris, age of menarche and features of menses (when present) in females; in both sexes we also evaluated the onset of puberty. All recruited males showed cryptorchidism, which was bilateral in 36 out of 42 patients (86%); 38 patients (90%) underwent orchidopexy. Small testes and scrotal hypoplasia were present in 76% and 69% of cases, respectively. In 76% of females, hypoplasia or absence of labia minora and/or clitoris was described. Spontaneous menarche occurred only in 14/32 cases (44%) over the age of 15 years, but menstrual cycles were often a periodical vaginal spotting. Primary amenorrhea was diagnosed in 56% of cases. Isolated premature pubarche was present in six males and in six females (14% of cases) while one male and two females were affected by precocious puberty (3.6%). Conclusion: Hypogonadism represents a common clinical feature in PWS, confirming the importance of such a major diagnostic criterion. Cryptorchidism was consistently present in all our cases. Patients with PWS commonly fail to spontaneously complete puberty, although some patients may have early pubarche or, more rarely, precocious puberty. In older subjects, hormonal replacement therapy is not always necessary and it must be reserved for selected patients.

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“…To date, growth hormone (GH) insufficiency and hypogonadism are well described, and the gonadal development at puberty is typically delayed or incomplete. Surprisingly, in this context, premature adrenarche may be observed in children affected by PWS [11, 12, 13, 14, 15], although the insulin [16]and IGF-I [17]levels are below the normal average due to insufficient GH secretion [18]. The issue of accelerated adrenal development against a background of hypothalamic-pituitary insufficiency in PWS has not yet been explained.…”

Section: Introductionmentioning

confidence: 99%

Increased Adrenal Androgen Levels in Patients with Prader-Willi Syndrome Are Associated with Insulin, IGF-I, and Leptin, but Not with Measures of Obesity

l’Allemand¹,

Eiholzer²,

Rousson

et al. 2002

Horm Res Paediatr

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Background/Aim: Since hyperandrogenism in simple obesity is assumed to arise from hyperinsulinism and/or increased insulin-like growth factor I (IGF-I) or leptin levels, we examined how in patients with Prader-Willi syndrome (PWS), the most frequent form of syndromal obesity, the accelerated adrenarche can be explained despite hypothalamic-pituitary insufficiency with low levels of insulin and IGF-I. Methods: In 23 children with PWS and a mean age of 5.6 years, height, weight, fat mass, fasting insulin concentration, insulin resistance (by HOMA-R; see text), and leptin and IGF-I levels were determined to test whether they explain the variance of the levels of dehydroepiandrosterone (DHEA) and its sulfate (DHEAS), of androstenedione, and of cortisol before and during 42 months of therapy with growth hormone. Results: The baseline DHEAS, DHEA, and androstenedione concentrations were increased as compared with age-related reference values, whereas the cortisol level was always normal. During growth hormone treatment, the DHEA concentration further rose, and the cortisol level decreased significantly. The insulin and IGF-I concentrations were low before therapy, while fat mass and leptin level were elevated. The hormonal covariates provided alone or together between 24 and 60% of the explanation for the variance of adrenal androgen levels, but the anthropometric variables did not correlate with them. Conclusions: In children with PWS, elevated androgen levels correlate with hormones that are usually associated with adiposity. However, the lack of direct correlations between disturbed body composition and androgen levels as well as the increased sensitivity to insulin and IGF-I are abnormalities specific to PWS, potentially caused by the underlying hypothalamic defect.

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Primary gonadal failure and precocious adrenarche in a boy with Prader-Labhart-Willi syndrome

Cited by 15 publications

References 17 publications

Prader-Labhart-Willi syndrome with central precocious puberty and empty sella syndrome

Prader-Labhart-Willi syndrome with central precocious puberty and empty sella syndrome

Hypogonadism and pubertal development in Prader-Willi syndrome

Increased Adrenal Androgen Levels in Patients with Prader-Willi Syndrome Are Associated with Insulin, IGF-I, and Leptin, but Not with Measures of Obesity

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