The Impact of Aging on Fertility: Similarities and Differences between Ovaries and Testes

The increasing age seems to have a negative impact on reproductive functions not only in women but also in men. Therefore, our aim was to review the data available in the literature regarding the impact of advancing age on fertility and the mechanisms underlying this association in both genders. The available data suggest that the effects of age on ovarian function cause a decrease in fertility starting 13 years before menopause. Statistics show that 10% of women will have a decreased fertility starting with the age of 30. The impact of age on ovary is due to both decreased number and quality of the oocytes, resulting in a high rate of chromosomal aneuploidy in the embryo and mitochondria dysfunction. Assisted reproductive technologies aiming to identify competent embryo were created but for the moment the results are unsatisfactory. On the other hand, in men, the semen quality and testicular function were found to gradually decrease with age and most of the studies also describe a negative impact on fertility. The mechanisms underlying decreased fertility are mainly genetic and epigenetics changes. However, if the effects of age on male fertility in men can be overcome by assisted reproductive technologies is not clear yet as the results of the studies are inconsistent

Hypogonadism in Female Patients with Beta Thalassemia Major

Beta thalassemia is the most frequent hemoglobinopathy worldwide. In patients with beta thalassemia major (BTM), the consequence of long-term life-saving transfusions is iron overload in liver, heart and endocrine glands. Hypogonadotropic hypogonadism is the most frequent endocrine complication. Recent progresses in the treatment of BTM dramatically improved life expectancy and quality of life of these patients, making the concern for fertility and pregnancy to gain importance. Therefore, we performed a review of the available data regarding hypogonadism in female patients with BTM. We found that hypogonadotropic hypogonadism is still frequently found in female patients with BTM. Pituitary iron overload seems to be the main factor contributing to hypogonadism occurrence, although iron-related damage of the ovaries and the genital tract cannot be excluded. The increased oxidative stress observed in BTM patients was hypothesized as a contributor to pituitary-gonadal dysfunction. Hypogonadism has significant consequences on quality of life, final height, bone health and fertility of the patients. Estro-progestative administration is essential in order to minimize consequences, although the best treatment regimen should be carefully weighted in each patient. Although spontaneous fertility is reduced by the presence of hypogonadism, it seems that ovulation-induction treatment with gonadotropins is effective in achieving pregnancies in majority of patients

Successful Treatment of Infertility in a Patient with Probable 17 Hydroxylase Deficiency and Particularities of Association with Adrenal Autoimmunity—A Case Report and Review of the Literature

Congenital adrenal hyperplasia (CAH) due to 17-hydroxylase deficiency (17OHD) is a rare disease accounting for less than 1% of cases of CAH. In female patients, fertility is severely affected mainly due to constantly increased progesterone affecting endometrium receptivity and implantation. The optimal treatment for infertility in these patients is not clearly established, with only a few recent case reports of successful pregnancies available in the literature. Hereby, we present the case of an infertile female patient with 17OHD who obtained pregnancy through an in vitro fertilization (IVF) freeze-all strategy and particularities of association with adrenal autoimmunity. A 32-year-old infertile female patient was referred for infertility evaluation and treatment. She had normal sex development and menstrual history with oligomenorrhea alternating with normal menstrual cycles. During the evaluation, a reduced ovarian reserve and obstruction of the left fallopian tube were identified, and IVF treatment was recommended. During a controlled ovarian stimulation for IVF, increased values of serum progesterone were observed; thus, all the embryos were frozen and additional tests were performed. Increased values of 17-hydroxyprogesteron, 11-deoxycorticosteron, and adrenocorticotropic hormones in association with low basal and stimulated serum cortisol, testosterone, androstenedione, and dehydroepiandrosterone sulfate were found, supporting the presence of 17OHD. She started treatment with oral hydrocortisone given at 20 mg/day but, because follicular phase serum progesterone remained high, hydrocortisone was replaced by an oral dexamethasone treatment of 0.5 mg/day, followed by the normalization of serum progesterone. A thawed blastocyst was transferred after preparation with oral estradiol at 6 mg/day and intravaginal progesterone at 600 mg/day under continuous suppression of endogenous progesterone production with a gonadotropin-releasing hormone agonist and oral dexamethasone. The patient became pregnant and delivered two healthy girls at term. One year after delivery, the presence of 21-hydroxylase antibodies was detected, which might explain the particularities of adrenal steroids in our patient. Our case report demonstrates that a patient with 17OHD can become pregnant through IVF and the transfer of thawed embryos in a subsequent cycle under continuous suppression of adrenal and ovarian progesterone production

DEFICITUL IZOLAT DE HORMON DE CREŞTERE – CAUZĂ RARĂ, DAR TRATABILĂ DE HIPOSTATURĂ

Deficitul de hormon de creştere este o cauză rară de statură joasă. Recunoaşterea precoce a afecţiunii permite un tratament eficient, ducând la o talie finală cât mai apropiată de talia ţintă genetică. Prezentăm cazul unui copil în vârstă de 1 an şi 2 luni, internat în clinica noastră pentru evaluare staturo-ponderală. Pacienta fusese diagnosticată la vârsta de 1 an cu deficit de hormon de creştere într-o clinică de endocrinologie pediatrică şi a fost îndrumată în clinica noastră pentru completarea investigaţiilor şi excluderea unei patologii structurale hipotalamo-hipofizare. Investigaţiile efectuate au exclus alte cauze de statură joasă. Evaluarea imagistică a evidenţiat hipotrofie adenohipofizară cu tijă hipofizară filiformă. Se îndrumă către clinica de endocrinologie, unde se iniţiază tratament cu hormon de creştere cu evoluţie favorabilă

ISOLATED GROWTH HORMONE DEFICIENCY – A RARE, BUT TREATABLE CAUSE OF LOW STATURE

Growth hormone deficiency is a rare cause of low stature. Early recognition of the disease results in effective treatment, leading to a final height as closely as possible to the genetic target. The authors present the case of a 1 year 2 months old girl admitted for growth evaluation in our department. She had been previously diagnosed with isolated growth hormone deficiency in an Endocrinology Unit and was now sent to complete the investigations and undergo imaging studies. The laboratory investigations excluded other pathologies. The MRI showed adenohypophysis hypoplasia, thin hypophyseal stalk. Se is started on growth hormone substitution treatment with good results

An Approach to Traumatic Brain Injury-Related Hypopituitarism: Overcoming the Pediatric Challenges

Traumatic brain injury (TBI)-related hypopituitarism is a rare polymorphic complication of brain injury, with very little data, particularly concerning children and teenagers. This is a comprehensive review of the literature regarding this pathology, starting from a new pediatric case. The research was conducted on PubMed and included publications from the last 22 years. We identified nine original studies on the pediatric population (two case reports and seven studies; only four of these seven were prospective studies). TBI-related hypopituitarism is associated with isolated hormonal deficits ranging from 22.5% to 86% and multiple hormonal deficiencies from 5.9% to 50% in the studied pediatric population. Growth hormone (GH) deficiency is most often found, including the form with late occurrence after TBI; it was described as persistent in half of the studies. Thyroid-stimulating hormone (TSH) deficiency is identified as a distant complication following TBI; in all three studies, we identified this complication was found to be permanent. Adrenocorticotropic hormone (ACTH) deficiency did not relate to a certain type of brain trauma, and it was transient in reported cases. Hyperprolactinemia was the most frequent hormonal finding, also occurring late after injury. Central diabetes insipidus was encountered early post-TBI, typically with a transient pattern and did not relate to a particular type of injury. TBI-related hypopituitarism, although rare in children, should be taken into consideration even after a long time since the trauma. A multidisciplinary approach is needed if the patient is to safely overcome any acute condition