Endocrine Abstracts

There is a bi-directional relationship between hypogonadism and type 2 diabetes and the metabolic syndrome (T2DM/MetS). Studies show that up to 50% of men with MetS/T2DM have testosterone deficiency. Moreover, both hypogonadism and MetS confer increased health risk for morbidity and mortality. Men with MetS are twice as likely to develop cardiovascular disease and have a fivefold higher risk for developing T2DM. Notably, the inverse relationship between testosterone and MetS i...

Primary forms of infertility result from gonadal causes and have limited treatment options. In contrast, secondary infertility is of neuroendocrine origin and is amenable to several therapeutic approaches. Reproductive capacity depends on critical developmental windows of hormonal activity during neonatal life and during puberty. Thus, a developmental perspective can provide insight for predicting fertility potential as well as for guiding the selection of treatment to maximiz...

Rare disease patients are frequently seen in endocrine clinic. These patients are not only faced with serious health challenges resulting from their chronic conditions, but often struggle with significant psychosocial impact. Understanding unmet patient needs and activating patients to become engaged participants in managing their condition are essential aspects for improving long-term outcomes for rare/chronic disease patients. Using the example of congenital hypogonadotropic...

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder (1:4′000-10′000) characterized by absent puberty and infertility. There is striking gender discordance (3–4 males for each female case) thus women with CHH are the “rarest of the rare”. Unlike many orphan conditions, treatments are available and hormonal therapies are effective for inducing puberty and fertility. However, the presumable availability of treatment does not ne...

Background: For chronic diseases, adherence to treatment remains a major clinical challenge. For men with long-term hypogonadism, there is scant data regarding adherence to treatment. Congenital hypogonadotropic hypogonadism (CHH) is a rare, genetic, endocrine disorder characterized by incomplete/absent puberty and infertility. Little is known about adherence in this patient population or the psychosocial implications of living with this rare disorder. Therefore, we aimed to e...

Introduction: Gender minorities, including transgender and gender diverse (TGD) individuals face health disparities and significant barriers in accessing healthcare. Lack of access to providers knowledgeable in TGD health needs is the single greatest barrier to care. Existing literature on TGD care has almost exclusively focused on physicians and there is scant literature on the role of nurses. We aimed to describe exemplars of nurse-led TGD care internationally to better unde...

Objective: Congenital hypogonadotropic hypogonadism (CHH) results from isolated GnRH deficiency and may present with normal sense of smell (nCHH), anosmia (Kallmann syndrome, KS) or in syndromic forms. Genetic defects are identified in approximately half of CHH cases and oligogenicity is noted in almost 10%. Further, spontaneous reversal of is seen in 15% of patients.Methods: We analyzed the clinical characteristics of 37 Serbian CHH probands (34 sporadi...

Context: Congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome are clinically and genetically overlapping syndromes, with mutations in the CHD7 gene presenting in both disorders. However systematic evaluation of CHARGE features in CHD7-positive CHH patients is seldom performed.Objective: This study aims to systematically evaluate CHARGE features in CHD7-positive patients and explore the phenotype-genotype correlation.<p...

Background: Congenital hypogonadotropic hypogonadism (CHH) is characterized by absent puberty and infertility due to a lack of GnRH secretion/action. In addition, patients exhibit variable non-reproductive phenotypes such as anosmia, cleft palate, synkinesia, and others. As many as 10% of CHH patients harbor mutations in FGFR1; this group is enriched for skeletal anomalies. We report here a novel CHH-associated skeletal phenotype, split hand/foot malformation (SHFM), ...