Multiple forms of hypogonadism of central, peripheral or combined origin in males with Prader–Willi syndrome

Radicioni, A.; Giorgio, G. Di; Grugni, Graziano; Cuttini, Marina; Losacco, V.; Anzuini, Antonella; Spera, S.; Marzano, C.; Lenzi, Andrea; Cappa, Marco; Crinò, Antonino

doi:10.1111/j.1365-2265.2011.04161.x

Cited by 59 publications

(57 citation statements)

References 30 publications

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“…Patients with PWS commonly fail to complete puberty, and, as a consequence, there was no final stature loss, in spite of slight bone age advance (4). In the present case, the decision to treat with GnRHa was made because of the development of aggressive behavior but also the bone age advance.…”

Section: Discussionmentioning

confidence: 74%

“…Gonadal axis function, however, is not homogeneous; normal gonadotropin response to GnRH test is quite common. but hypergonadotropic hypogonadism has also been described (4). Moreover, many children present premature adrenarche that is manifested with slightly advanced bone maturation related to obesity; usually, puberty fails to progress beyond this stage.…”

Section: Discussionmentioning

confidence: 99%

“…Usually these patients have hypogonadism manifested as genital hypoplasia and unilateral or bilateral cryptorchidism, incomplete pubertal development, and infertility, which are attributed to both hypothalamic dysfunction and/or to primary gonadal defect (4). In fact, hypogonadism is one of the eight major clinical diagnostic signs of PWS, whereas isolated premature adrenarche is frequently observed and is accepted as a minor criterion (3).…”

Section: Introductionmentioning

confidence: 99%

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A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy

Ludwig

Radaeli

Silva

et al. 2016

Arch. Endocrinol. Metab.

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SUMMARYPrader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up o f a PWS boy w i t h C P P and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test. Therapy with recombinant human growth hormone (rhGH) replacement (0.15 IU/kg/day) was started. Later, he presented psychomotor agitation, aggressive behavior, and increased testicular volume. Laboratory analyses were consistent with the diagnosis of CPP (gonadorelin-stimulated LH peak 15.8 IU/L, testosterone 54.7 ng/dL). The patient was then treated with gonadotropin-releasing hormone analog (GnRHa). Hypothalamic dysfunctions have been implicated in hormonal disturbances related to pubertal development, but no morphologic abnormalities were detected in the present case. Additional methylation analysis (MS-MLPA) of the chromosome 15q11 locus confirmed PWS diagnosis. We presented the fifth case of CPP in a genetically-confirmed PWS male. Combined therapy with GnRHa and rhGH may be beneficial in this rare condition of precocious pubertal development in PWS. Arch Endocrinol Metab. 2016;60(6):596-600

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Section: Discussionmentioning

confidence: 74%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy

Ludwig

Radaeli

Silva

et al. 2016

Arch. Endocrinol. Metab.

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“…33 In women, there is greater phenotypic variability in relation to ovarian function. 35 Recently Radicioni et al 36 and Gross-Tsur et al 37 confirmed the heterogeneity of the reproductive hormone profile in patients with PWS.…”

Section: Hypogonadismmentioning

confidence: 76%

Endocrine management of children with Prader–Willi syndrome

Medeiros¹,

Bordallo²,

Souza³

et al. 2013

PHMT

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Prader-Willi syndrome is a rare genetic condition afflicting nearly 1/15,000 live births. Clinical features include neonatal hypotonia, poor weight gain in early infancy followed by binge eating from childhood to adulthood, severe obesity, developmental delay, short stature, and hypogonadism of both central and peripheral etiology. Central hypothyroidism and adrenal insufficiency may occur. Sleep disordered breathing, by obstruction of upper airways associated with central hypoventilation, is a common feature. Most of these characteristics are assumed to be the result of a hypothalamic dysfunction. The most important complication and the most difficult to manage is the obesity. This review aims at discussing the most recent strategies to manage the endocrine complications of Prader-Willi syndrome patients, with a special approach on the treatment of obesity, hypogonadism, and short stature. We summarize the indication and effects of recombinant human growth hormone therapy on growth, cognitive development, and body composition, and discuss the effects of recombinant human growth hormone therapy on the resulting sleep disorders.

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“…18 The degree of hypogonadism is variable and is less severe in females than in males. 19 Males only occasionally show secondary characteristics and voice change, male body habitus, or significant facial and body hair.…”

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confidence: 99%

Prader–Willi syndrome: clinical problems in transition from pediatric to adult care

Crinó

Fintini²,

Bocchini³

et al. 2016

RRED

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Prader-Willi syndrome (PWS) represents the most common form of genetic obesity. Thanks to the advances in medical care and technology, many persons with PWS live longer and survive to adulthood. Currently, because of the many physical and behavioral manifestations, transitional health care is not easy for these patients and is considered a very important issue. Moreover, very few studies have examined these transitional problems in young adults with PWS. In recent years, there has been great interest in improving transition planning and support for young people with PWS reaching adulthood. In this article, we underline the main clinical problems in transition and give some advice to make this period less difficult and easier for adolescents with PWS. Special attention should be paid to obesity, diabetes mellitus, hypertension, osteoporosis, and sleep apnea during the period of transition. In PWS, for an effective transition from childhood to adulthood, a multidisciplinary team is needed, and should maintain the same approach to food, environment, and psychiatric issues. For comprehensive care, it is necessary to involve adult endocrinologists and other medical specialists in conjunction with the pediatric team. Parental involvement is, however, a great help for supervising adolescents with PWS during this particular period.

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Multiple forms of hypogonadism of central, peripheral or combined origin in males with Prader–Willi syndrome

Cited by 59 publications

References 30 publications

A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy

A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy

Endocrine management of children with Prader–Willi syndrome

Prader–Willi syndrome: clinical problems in transition from pediatric to adult care

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Multiple forms of hypogonadism of central, peripheral or combined origin in males with Prader–Willi syndrome

Cited by 59 publications

References 30 publications

A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy

A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy

Endocrine management of children with Prader&ndash;Willi syndrome

Prader&ndash;Willi syndrome: clinical problems in transition from pediatric to adult care

Contact Info

Product

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Endocrine management of children with Prader–Willi syndrome

Prader–Willi syndrome: clinical problems in transition from pediatric to adult care