Hypergonadotropic-hypogonadism in the Prader-Labhart-Willi syndrome

Seyler, L. Everett; Arulanantham, Karunyan; O'Connor, Christina

doi:10.1016/s0022-3476(79)80596-x

Cited by 15 publications

(6 citation statements)

References 5 publications

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“…Finally, six patients (25%) showed a partial central hypogonadism for LH/testosterone axis (normal LH despite low testosterone), associated with peripheral gonadal dysfunction for FSH/inhibin B axis (high FSH and low InhB): a hormonal pattern that we consider as a combined hypogonadism. On the other hand, none of our older patients showed the classical hypergonadotropic hypogonadism (high LH/low testosterone associated with high FSH/low inhibin B), in contrast to what previously reported 17,18,24 …”

Section: Discussioncontrasting

confidence: 99%

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

Radicioni

Giorgio

Grugni

et al. 2011

Clinical Endocrinology

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Section: Discussioncontrasting

confidence: 99%

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

Radicioni

Giorgio

Grugni

et al. 2011

Clinical Endocrinology

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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: 71%

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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“…Hypergonadotrophic hypogonadism is also reported. 23 We know of no fertility that has occurred. Normal testicular biopsies were reported earlier18 but more recently abnormalities of testicular morphology have been described-such as interstitial cell defects, tubular atrophy, hyalinisation, absence of the germinal cell layer, and lack of spermatogenesis.5 20-21 [24][25][26] It appears that testicular dysplasia is one of the reasons for the hypogonadism.…”

Section: Discussionmentioning

confidence: 99%

“…Results of endocrine tests in 8 patients suggested that the hypogonadism was due to malfunction at the level of the hypothalamus but there was additional and primary gonadal defect. These data are reported separately.8 Oral glucose tolerance tests were performed in 23 patients. Four had diabetic blood sugar curves, and 3 were clinically diabetic.…”

Section: Patientsmentioning

confidence: 99%

Prader-Willi Syndrome after age 15 years.

Laurance¹,

Brito²,

Wilkinson³

1981

Archives of Disease in Childhood

131

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SUMMARY Twenty-four patients, all of them over 15 years, with the Prader-Willi syndrome are described. Obesity, often extreme, associated with an insatiable appetite, was their principal handicap and this was made worse by educational subnormality and hypogonadism. Three of them developed diabetes. Each attended a special school or an adult training centre. Although most of them were of short stature and had scoliosis, 2 were tall but they were even more severely mentally retarded than is usually the case. Nine other patients died aged between 3 and 23 years. The most common cause of death was cor pulmonale.

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Hypergonadotropic-hypogonadism in the Prader-Labhart-Willi syndrome

Cited by 15 publications

References 5 publications

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

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

Hypogonadism and pubertal development in Prader-Willi syndrome

Prader-Willi Syndrome after age 15 years.

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