- Female gonadal functions and ovarian reserve in patients with acromegaly: experience from a single tertiary center. [Journal Article]
- EEndocrine 2018 Feb 05
- CONCLUSIONS: The most important factors affecting gonadal functions, excluding central hypogonadism, are hyperprolactinemia and the duration of the indolent period before diagnosis of acromegaly. AMH levels in the majority of patients were found to be lower than the expected age. Despite the decreased ovarian reserve, fertilization and normal birth can be achieved with careful surveillance.
- Recovery from reproductive impact of androgen abuse. [Journal Article]
- COCurr Opin Endocrinol Diabetes Obes 2018 Jan 31
- CONCLUSIONS: Androgen abuse has profound and commonly under-recognized effects on the reproductive system; recovery following androgen withdrawal may be prolonged and occasionally incomplete.
- SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant. [Journal Article]
- EJEur J Med Genet 2018 Jan 25
- SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to various systemic features. We investigated a 26-year-old female patient ...
SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to various systemic features. We investigated a 26-year-old female patient suffering from spastic paraparesis, hypoplasia of corpus callosum, hypogonadotropic hypogonadism (HH) and intellectual disability, who was monitored for over 20 years, allowing a detailed genotype-phenotype correlation along time. Whole exome sequencing on the patient and her relatives identified a de novo SOX2 c.70del20 variant, which has been frequently reported in individuals with SOX2-related anophthalmia. Importantly, our patient lacked major ocular phenotype but showed vaginal agenesis, a feature never reported before. Although the involvement of male urogenital tract (cryptorchidism, hypospadias, small penis), is a well known consequence of SOX2 variants, their effect on the female genitalia has never been properly addressed, even considering the paradoxical female excess of SOX2 cases in the literature. Our findings emphasize the importance of testing for SOX2 variants in individuals with HH and genital anomalies even though anophthalmia or microphthalmia are not observed. Moreover, our case strengthens the role of SOX2 as a master regulator of female gonadal differentiation, as widely demonstrated for other SOX genes related to 46, XX sex reversal, such as SOX3 and SOX9.
- Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency. [Journal Article]
- MGMol Genet Genomic Med 2018 Jan 24
- CONCLUSIONS: Our findings indicate that NUP107 R355C variant falls in the category of variant of unknown significance as the cause of HH and infertility.
- Seminal SIRT1 expression in infertile oligoasthenoteratozoospermic men with varicocoele. [Journal Article]
- AAndrology 2018 Jan 22
- In a case-controlled study, we assessed the expressed seminal NAD-dependent protein deacetylase (SIRT1) expression in infertile oligoasthenoteratozoospermic (OAT) men associated with varicocoele. Our...
In a case-controlled study, we assessed the expressed seminal NAD-dependent protein deacetylase (SIRT1) expression in infertile oligoasthenoteratozoospermic (OAT) men associated with varicocoele. Our study involved 81 men, recruited from the University hospitals, after ethical approval and informed consent. They were allocated into fertile normozoospermic men (n = 23), infertile OAT men without varicocoele (n = 23) and infertile OAT men with varicocoele (n = 35). Inclusion criteria consisted of confirmation of abnormal semen parameters and normal female partners whereas exclusion criteria were leukocytospermia, tobacco smoking, hormonal therapy, immunological disorders, dyslipidemia, hypogonadism, cardiovascular disorders, morbid obesity, and hepatic or renal failures. All participants had an interview to assess clinical history, clinical examination, semen analysis, and estimation of seminal SIRT1 expression. Seminal SIRT1 expression was significantly lower in infertile OAT men than fertile men. Among infertile OAT men, seminal SIRT1 expression was significantly lower in those with varicocoele than in those without. Additionally, seminal SIRT1 expression was significantly lower in varicocoele grade III cases compared with other grades. Seminal SIRT1 expression was positively correlated with sperm concentration (r = 0.327, p = 0.001), total sperm motility (r = 0.532, p = 0.001), and sperm normal forms (r = 0.469, p = 0.001). Our results suggest that seminal SIRT1 expression has a role of male infertility being significantly decreased in infertile OAT men in general and in infertile OAT men associated with varicocoele in particular.
- Safety and tolerability of one-year intramuscular testosterone regime to induce puberty in older men with CHH. [Journal Article]
- ECEndocr Connect 2018; 7(1):133-138
- We present herein our 20-year experience of pubertal induction in apubertal older (median age 56 years; range 38.4-69.5) men with congenital hypogonadotrophic hypogonadism (n = 7) using a simple fixe...
We present herein our 20-year experience of pubertal induction in apubertal older (median age 56 years; range 38.4-69.5) men with congenital hypogonadotrophic hypogonadism (n = 7) using a simple fixed-dose and fixed-interval intramuscular testosterone that we originally pioneered in relation to achieving virilisation of natal female transgender men. This regime was effective and well tolerated, resulting in complete virilisation by around 1 year after treatment initiation. No physical or psychological adverse effects were encountered in this group of potentially vulnerable individuals. There were no abnormal excursions of laboratory parameters and extended follow-up beyond the first year of treatment revealed remarkable improvements in bone density. We highlight advantages to both patients and physicians of this regime in testosterone-naïve older men with congenital hypogonadism and discourage the over-rigid application to such patients of treatment algorithms derived from paediatric practice in relation to the evaluation and management in younger teenagers with delayed puberty of uncertain cause.
- Chronic cholestasis is associated with hypogonadism and premature ovarian failure in adult rats (cholestasis causes ovarian hypogonadism). [Journal Article]
- UPUltrastruct Pathol 2018 Jan-Feb; 42(1):23-31
- Hypogonadism is a well-known complication in males with chronic liver diseases. However, the consequences of chronic hepatopathies on female reproductive capacities have received relatively little at...
Hypogonadism is a well-known complication in males with chronic liver diseases. However, the consequences of chronic hepatopathies on female reproductive capacities have received relatively little attention. The present study evaluates the effect of chronic obstructive jaundice on the ovary of adult cycling rats. Estrous cyclicity was monitored to check the functional status of the hypothalamic-pituitary-ovarian axis. Ovarian changes were assessed using histomorphometric, immunohistochemical, and ultrastructural techniques. Chronic cholestasis was associated with estrous cycle irregularities, diminished ovarian weight, primordial follicle loss, atretic follicle prevalence, marked stromal fibrosis, and diminished immunoexpression of proliferation marker and estrogen receptors, in addition to many ultrastructural alterations in theca, granulosa cells, and oocytes of antral follicles. The results establish that chronic cholestasis causes hypogonadism and premature ovarian insufficiency in adult cycling female rats.
- Effects of aging, gender, and hypogonadism on mandibular bone density. [Journal Article]
- JIJ Investig Clin Dent 2018 Jan 01
- CONCLUSIONS: Hypogonadism promotes alterations in the mandible over chronic periods, especially in males, and these alterations could be minimized by hormone treatment.
- A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency. [Journal Article]
- DMDiscov Med 2017; 24(133):175-182
- CONCLUSIONS: We identified a novel compound heterozygous CYP17A1 mutation His373Tyr (c.1117C>T) in a patient with 17α-hydroxylase/17,20-lyase deficiency.
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- Serum Testosterone Concentrations Remain Stable Between Injections in Patients Receiving Subcutaneous Testosterone. [Journal Article]
- JEJ Endocr Soc 2017 Aug 01; 1(8):1095-1103
- CONCLUSIONS: The results of this study support use of SC testosterone to achieve therapeutic and stable serum testosterone levels for the purpose of gender transition. It is anticipated that these results can be extended to hypogonadal men. This route may be preferred over IM testosterone because it is relatively painless and easy to self-inject thus allowing for the convenience and economy of patient self-administration.