Prader–Willi Syndrome and Hypogonadism: A Review Article

Noordam, C.; Höybye, Charlotte; Eiholzer, Urs

doi:10.3390/ijms22052705

Cited by 39 publications

(41 citation statements)

References 47 publications

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“…They suggest starting sex hormones substitution at the same age and using the same dosage regimen used for normal hypogonadal children and adolescents. However, much evidence is needed, in particular, to clarify the effects of the long-term treatment on muscle mass and peak bone mass in order to extend the supplementation of sex steroids in PWS [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

Prader–Willi Syndrome with Angelman Syndrome in the Offspring

et al. 2021

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We report the second case, to the best of our knowledge, of a mother with Prader–Willi syndrome (PWS) who gave birth to a daughter with Angelman syndrome (AS). The menarche occurred when she was 16, and the following menstrual cycles were irregular, but she never took sexual hormone replacement therapy. At the age of 26, our patient with PWS became pregnant. The diagnosis was confirmed by molecular genetic testing that revealed a ~5.7 Mb deletion in the 15q11.1–15q13 region on the paternal allele in the mother with PWS and the maternal one in the daughter with AS, respectively. Both the mother with PWS and the daughter with AS showed peculiar clinical and genetic features of the two syndromes. Our case report reaffirms the possible fertility in PWS; therefore, it is very important to develop appropriate socio-sexual education programs and fertility assessments in order to guarantee the expression of a healthy sexuality.

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Section: Discussionmentioning

confidence: 99%

Prader–Willi Syndrome with Angelman Syndrome in the Offspring

et al. 2021

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“…Of 27 males described by these authors, all 7 in whom androgen replacement was discontinued for behavioural reasons had pre-existing problems. Accordingly, the authors recommend inducing puberty at the normal dose and the normal age in PWS, administering estradiol 0.5 mg daily from 11-12 years in girls, and testosterone enanthate 100mg/4 weeks from 13 -14.5 years in boys (31). Furthermore, it is important to consider the potential benefits, not only of growth hormone replacement therapy (32), but also sex steroid replacement therapy on metabolic health and…”

Section: Discussionmentioning

confidence: 99%

“…Regarding the risk of sex steroid exacerbating behaviour problems in PWS, the comprehensive review of Noordam et al . points to the lack of scientific evidence for any detrimental ( 31 ). Of 27 males described by these authors, all 7 in whom androgen replacement was discontinued for behavioural reasons had pre-existing problems.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Hypogonadism in Prader–Willi syndrome from birth to adulthood: a 28-year experience in a single centre

Kherra

Paterson

Çizmecioğlu

et al. 2021

Endocrine Connections

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Background: Hypogonadism is a key feature of Prader-Willi syndrome (PWS) but clear strategies for hormone replacement are lacking. Objective: To evaluate gonadal status and outcome in patients attending a Scottish PWS clinic from 1991-2019. Methods: In 93 (35F:56M) patients, median follow-up 11.2 years, gonadal and pubertal status were assessed clinically. Pelvic ultrasound findings and basal/stimulated gonadotrophins were compared with age-matched controls. Results: Females: Of 22 patients aged >11, 9 had reached B4-5, while 5 were still at B2-3, and 6 remained prepubertal. Eight patients experienced menarche aged 9.8-21.4 years, none with a normal cycle. Uterine length and ovarian volumes were normal but uterine configuration remained immature, with low follicular counts. Gonadotrophins were unremarkable, serum estradiol 129 (70 – 520) pmol/L. Only 5 patients received oestrogen replacement. Males: Fifty-four (96%) patients were cryptorchid (9 unilateral). Weekly hCG injections resulted in unilateral/bilateral descent in 2/1 of 25 patients. Of 37 boys aged >11, 14 (9 with failed/untreated bilateral cryptorchidism) failed to progress beyond G1, 15 arrested at G2-3 (testes 3-10 ml), and 8 reached G4-5. Gonadotrophins were unremarkable except in boys at G2-5 in whom FSH was elevated: 12.3/27.3 vs 3.25/6.26 U/L in controls (p<0.001). In males aged >13, testosterone was 3.1 (0.5-8.4) nmol/L. Androgen therapy, given from 13.5-29.2 years, was stopped in 4/24 patients owing to behavioural problems. Conclusion: Despite invariable hypogonadism, few females and only half the males with PWS in this study received hormone replacement. Double-blind placebo-controlled crossover trials of sex steroids are required to address unproven behavioural concerns.

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“…The incidence of psychosis in adults with PWS is high (10-20%), particularly in those with the mUPD genotype [1,2]. Hypogonadism with various degrees of genital hypoplasia, delayed or incomplete pubertal development, and infertility is seen in about 90% and involves both hypothalamic and primary gonadal abnormalities [1][2][3][4][5][6]. PWS is associated with hypogonadism irrespective of prolactin levels.…”

Section: Introductionmentioning

confidence: 99%

Hyperprolactinemia in Adults with Prader-Willi Syndrome

Sjöström

Pellikaan

Sjöström

et al. 2021

JCM

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Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder typically characterized by body composition abnormalities, hyperphagia, behavioural challenges, cognitive dysfunction, and hypogonadism. Psychotic illness is common, particularly in patients with maternal uniparental disomy (mUPD), and antipsychotic medications can result in hyperprolactinemia. Information about hyperprolactinemia and its potential clinical consequences in PWS is sparse. Here, we present data from an international, observational study of 45 adults with PWS and hyperprolactinemia. Estimated prevalence of hyperprolactinemia in a subset of centres with available data was 22%, with 66% of those related to medication and 55% due to antipsychotics. Thirty-three patients were men, 12 women. Median age was 29 years, median BMI 29.8 kg/m2, 13 had mUPD. Median prolactin was 680 mIU/L (range 329–5702). Prolactin levels were higher in women and patients with mUPD, with only 3 patients having severe hyperprolactinemia. Thyroid function tests were normal, 24 were treated with growth hormone, 29 with sex steroids, and 20 with antipsychotic medications. One patient had kidney insufficiency, and one a microprolactinoma. In conclusion, severe hyperprolactinemia was rare, and the most common aetiology of hyperprolactinemia was treatment with antipsychotic medications. Although significant clinical consequences could not be determined, potential negative long-term effects of moderate or severe hyperprolactinemia cannot be excluded. Our results suggest including measurements of prolactin in the follow-up of adults with PWS, especially in those on treatment with antipsychotics.

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Prader–Willi Syndrome and Hypogonadism: A Review Article

Cited by 39 publications

References 47 publications

Prader–Willi Syndrome with Angelman Syndrome in the Offspring

Prader–Willi Syndrome with Angelman Syndrome in the Offspring

Hypogonadism in Prader–Willi syndrome from birth to adulthood: a 28-year experience in a single centre

Hyperprolactinemia in Adults with Prader-Willi Syndrome

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