Management of hypogonadism from birth to adolescence

Howard, Sasha; Dunkel, Leo

doi:10.1016/j.beem.2018.05.011

Cited by 28 publications

(22 citation statements)

References 111 publications

(95 reference statements)

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“…In some cases, clinical “red flags” may point to a diagnosis (1, 8–10) (Box 2). Unfortunately, such clinical signs often go unrecognized (or their significance is not appreciated) and a “watchful waiting” approach is taken (11). Making a diagnosis is complicated and difficult because CHH/KS is a diagnosis of exclusion and other potential causes (i.e., functional, iatrogenic and tumors) must be ruled-out (1, 12).…”

Section: The Challenge Of Diagnosismentioning

confidence: 99%

Psychological Aspects of Congenital Hypogonadotropic Hypogonadism

Dwyer

Smith²,

Quinton

2019

Front. Endocrinol.

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Congenital hypogonadotropic hypogonadism/Kallmann syndrome (CHH/KS) is a rare, treatable form of infertility. Like other rare disease patients, individuals with CHH/KS frequently experience feelings of isolation, shame, and alienation. Unlike many rare diseases, CHH/KS is not life threatening and effective treatments are available. Nevertheless, it remains a profoundly life-altering condition with psychosocial distress on a par with untreatable or life-limiting disease. Patients with CHH/KS frequently express lasting adverse psychological, emotional, social, and psychosexual effects resulting from disrupted puberty. They also frequently experience a “diagnostic odyssey,” characterized by distressing and convoluted medical referral pathways, lack-of-information, misinformation, and sometimes-incorrect diagnoses. Unnecessary delays in diagnosis and treatment-initiation can significantly contribute to poor body image and self-esteem. Such experiences can erode confidence and trust in medical professionals as well as undermine long-term adherence to treatment–with negative sequelae on health and wellbeing. This review provides a summary of the psychological aspects of CHH/KS and outlines an approach to comprehensive care that spans medical management as well as appropriate attention, care and referrals to peer-to-peer support and mental health services to ameliorate the psychological aspects of CHH/KS.

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Section: The Challenge Of Diagnosismentioning

confidence: 99%

Psychological Aspects of Congenital Hypogonadotropic Hypogonadism

Dwyer

Smith²,

Quinton

2019

Front. Endocrinol.

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“…Early diagnosis would provide the opportunity for patients to receive appropriate and consistent care and support at specialized centers without delay. Treatment can also be tailored according to the needs and goals in different stages of life (6, 48).…”

Section: Unmet Health Needsmentioning

confidence: 99%

Congenital Hypogonadotrophic Hypogonadism: Minipuberty and the Case for Neonatal Diagnosis

Swee

Quinton

2019

Front. Endocrinol.

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Congenital hypogonadotrophic hypogonadism (CHH) is a rare but important etiology of pubertal failure and infertility, resulting from impaired gonadotrophin-releasing hormone secretion or action. Despite the availability of effective hormonal therapies, the majority of men with CHH experience unsatisfactory outcomes, including chronic psychosocial and reproductive sequelae. Early detection and timely interventions are crucial to address the gaps in medical care and improve the outlook for these patients. In this paper, we review the clinical implications of missing minipuberty in CHH and therapeutic strategies that can modify the course of disease, as well as explore a targeted approach to identifying affected male infants by integrating clinical and biochemical data in the early postnatal months.

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“…Early postnatal life is also another crucial period for germ cell development and testicular growth [38]. The hypothalamo-pituitary-gonadal axis is active and the completion of gonocyte differentiation into spermatogonia occurs during this period [38]. As a result, gonocyte loss following platinum exposure during infancy may impact on the establishment of the normal pool of SSCs, and fertility in adulthood.…”

Section: Discussionmentioning

confidence: 99%

Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer

Tharmalingam

Matilionyte

Wallace

et al. 2020

BMC Med

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Background Clinical studies indicate chemotherapy agents used in childhood cancer treatment regimens may impact future fertility. However, effects of individual agents on prepubertal human testis, necessary to identify later risk, have not been determined. The study aimed to investigate the impact of cisplatin, commonly used in childhood cancer, on immature (foetal and prepubertal) human testicular tissues. Comparison was made with carboplatin, which is used as an alternative to cisplatin in order to reduce toxicity in healthy tissues. Methods We developed an organotypic culture system combined with xenografting to determine the effect of clinically-relevant exposure to platinum-based chemotherapeutics on human testis. Human foetal and prepubertal testicular tissues were cultured and exposed to cisplatin, carboplatin or vehicle for 24 h, followed by 24–240 h in culture or long-term xenografting. Survival, proliferation and apoptosis of prepubertal germ stem cell populations (gonocytes and spermatogonia), critical for sperm production in adulthood, were quantified. Results Cisplatin exposure resulted in a significant reduction in the total number of germ cells (− 44%, p < 0.0001) in human foetal testis, which involved an initial loss of gonocytes followed by a significant reduction in spermatogonia. This coincided with a reduction (− 70%, p < 0.05) in germ cell proliferation. Cisplatin exposure resulted in similar effects on total germ cell number (including spermatogonial stem cells) in prepubertal human testicular tissues, demonstrating direct relevance to childhood cancer patients. Xenografting of cisplatin-exposed human foetal testicular tissue demonstrated that germ cell loss (− 42%, p < 0.01) persisted at 12 weeks. Comparison between exposures to human-relevant concentrations of cisplatin and carboplatin revealed a very similar degree of germ cell loss at 240 h post-exposure. Conclusions This is the first demonstration of direct effects of chemotherapy exposure on germ cell populations in human foetal and prepubertal testis, demonstrating platinum-induced loss of all germ cell populations, and similar effects of cisplatin or carboplatin. Furthermore, these experimental approaches can be used to determine the effects of established and novel cancer therapies on the developing testis that will inform fertility counselling and development of strategies to preserve fertility in children with cancer.

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Management of hypogonadism from birth to adolescence

Cited by 28 publications

References 111 publications

Psychological Aspects of Congenital Hypogonadotropic Hypogonadism

Psychological Aspects of Congenital Hypogonadotropic Hypogonadism

Congenital Hypogonadotrophic Hypogonadism: Minipuberty and the Case for Neonatal Diagnosis

Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer

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