Reversible hypogonadism in Bardet-Biedl syndrome

Desai, Ankush; Jha, Onkar; Iyer, Venkateswaran K.; Dada, Rima; Kumar, Rakesh; Tandon, Nikhil

doi:10.1016/j.fertnstert.2009.02.023

Cited by 11 publications

(6 citation statements)

References 17 publications

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“…Reversal of CHH occurs in 10% to 20% of patients, which challenges the dogma that the condition is lifelong ( 35 ). Desai et al have described a case of reversible hypogonadotropic hypogonadism in a BBS man ( 40 ). We propose the hypothesis that in BBS patients, the increase of cilia number on GnRH neurons during puberty, as observed in mice, leading to an increase in KISS1Rs number, might overcome the individual signal reduction and allow a normal puberty and normal adult gonadotropic axis in most of cases.…”

Section: Discussionmentioning

confidence: 99%

“…We propose the hypothesis that in BBS patients, the increase of cilia number on GnRH neurons during puberty, as observed in mice, leading to an increase in KISS1Rs number, might overcome the individual signal reduction and allow a normal puberty and normal adult gonadotropic axis in most of cases. Many case reports focused on pubertal delay ( 32 , 34 , 40 ). Unfortunately, exact timing and tempo of puberty could not be assessed in our patients since it was a retrospective declarative data.…”

Section: Discussionmentioning

confidence: 99%

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Reproduction Function in Male Patients With Bardet Biedl Syndrome

Koscinski

Mark

Messaddeq

et al. 2020

The Journal of Clinical Endocrinology &Amp; Metabolism

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Purpose Bardet-Biedl syndrome (BBS) is a ciliopathy with a wide spectrum of symptoms due to primary cilia dysfunction including genitourinary developmental anomalies as well as impaired reproduction particularly in males. Primary cilia are known to be required at the following steps of reproduction function: (1) genitourinary organogenesis, (2) in the fetal firing of hypothalamo-pituitary axe, (3) sperm flagellum structure and (4) the first zygotic mitosis conducted by proximal sperm centriole. BBS phenotype is not fully understood. Methods This study explored all steps of reproduction in 11 French male patients with identified BBS mutations. Results BBS patients presented frequently genitourinary malformations as cryptorchidism (5/11), short scrotum (5/8), micropenis (5/8) but unexpectedly, normal testis size (7/8). Ultrasonography highlighted epididymal cysts or agenesis of one seminal vesicle in some cases. Sexual hormones levels were normal in all patients except one. Sperm numeration was normal in 8 out of the 10 obtained samples. Five to 45% of sperm presented a progressive motility. Electronic microscopy did not reveal any homogeneous abnormality. Moreover, a psychological approach pointed a decreased self-confidence linked to blindness and obesity explaining why so few BBS patients express a child wish. Conclusions PC dysfunction in BBS impacts embryology of the male genital tract, especially epididymis, penis and scrotum through an insufficient fetal androgen production. However, in adults, sperm structure does not seem to be impacted. These results should be confirmed in a greater BBS patient cohort, focusing on fertility.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Reproduction Function in Male Patients With Bardet Biedl Syndrome

Koscinski

Mark

Messaddeq

et al. 2020

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…This report suggests that management of metabolic abnormalities associated with BBS may lead to symptom amelioration and improved overall health. Selected adult BBS patients have experienced some improvement in relation to neurological and reproductive impairments (48,49), but this is the first report (to the authors' knowledge) of reversal of both primary and secondary clinical manifestations of BBS in a young child.…”

Section: Discussionmentioning

confidence: 83%

Potential amelioration of morbidity in patients with chromosomal anomalies: relevance to Bardet-Biedl syndrome

Genuis

2011

Clinical Genetics

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Given the genetic basis of their disease, children with major chromosomal abnormalities including Bardet-Biedl syndrome (BBS) are generally considered to have a guarded prognosis with persistence or progression of disease manifestations. Although various therapeutic interventions are commonly used to control signs and symptoms of illness, parents of BBS children are usually cautioned against hoping for sustained improvement. A case of a 21-month-old girl, diagnosed with BBS, manifesting signs of worsening visual impairment, obesity, irascible and disordered behaviour, as well as developmental delay, is presented. After initial evaluation suggested specific biochemical deficiencies, nutritional status correction was undertaken and the patient's signs and symptoms subsequently resolved over the course of several months. To the authors' knowledge, this is the first case report of sustained resolution of all disease manifestations in the face of previously deteriorating health in a young child with this major chromosomal abnormality. It appears that biochemical imbalances and insufficiencies resulting from abnormal metabolism and excretion are potentially amenable to extraordinary dietary supplementation, with partial or complete resolution of clinical abnormalities. It is recommended that all children with chromosomal abnormalities have biochemical and nutritional status evaluation with correction of disordered biochemistry as is possible.

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“…Several case reports have demonstrated testicular atrophy, hypogonadotrophic hypogonadism, spermatogenic arrest, low plasma levels of LH and testosterone, hypothalamic-pituitary dysfunction, and degeneration of seminiferous tubules in these cases [91].…”

Section: Bardet-biedl Syndromementioning

confidence: 97%

Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility

Marzouni¹,

Harchegani²,

Layali³

2021

JOMH

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Background and objectives: Recent investigations have reported more than 70 genetic syndromes involved in male infertility; however, the majority of these syndromes are extremely rare. We aimed to report the most common chromosomal abnormalities and associated rare genetic syndromes in the context of human male infertility. Materials and Methods: We performed a review of published articles considering the most common chromosomal aneuploidies and rare genetic syndromes associated with male infertility on PubMed, Web of Science, and Scopus. Results: Chromosomal abnormalities are frequently found in infertile men, with an incidence rate of 2-15%. The chromosomal aberrations include the sex and autosomal chromosome abnormalities, as well as numerical and structural defects in chromosomes. There are various rare genetic syndromes involved in male infertility that are caused by structural and numerical abnormalities in chromosomes. Klinefelter syndrome is the most common type of sex chromosome aneuploidy in infertile males. Besides, Y chromosome microdeletions, particularly in azoospermia factor regions, serve as the second most common genetic cause of impaired spermatogenetic in infertile men. These molecular genetic abnormalities not only can be inherited, but also they may transmit to the next generation through assisted reproductive techniques and result in the birth of boys with higher risk of congenital abnormalities and infertility. Despite the normal secondary male sexual characteristics, some patients are azoospermic or severe oligozoospermic men. Therefore, identiﬁcation of these molecular genetic factors and rare genetic disorders is essential in men with unexplained infertility. Discussion and conclusion: Since most of molecular genetic abnormalities can be transmitted to the next generation, identiﬁcation of these rare genetic disorders is crucial for men with unexplained infertility. It is also essential for clinicians and physicians of reproductive medicine and andrologists to initiate genetic evaluation, aneuploidy screening and counseling prior to any therapeutic procedures.

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Reversible hypogonadism in Bardet-Biedl syndrome

Cited by 11 publications

References 17 publications

Reproduction Function in Male Patients With Bardet Biedl Syndrome

Reproduction Function in Male Patients With Bardet Biedl Syndrome

Potential amelioration of morbidity in patients with chromosomal anomalies: relevance to Bardet-Biedl syndrome

Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility

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