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.

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.

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy in acromegalic patient with severe headache.

A 68-year-old female patient was admitted in our clinic with severe frontal bilateral headache, dizziness, depression and cognitive decline in the context of a previously diagnosed acromegaly. She also had high blood pressure, dyslipidemia, secondary diabetes mellitus. Acromegaly was caused by a growth hormone (GH) secreting-pituitary macroadenoma, so a transsphenoidal surgery was performed. The postoperative magnetic resonance imaging (MRI) scan revealed a 20÷22÷25 mm pituitary mass remnant and medical therapy with somatostatin analogues (SSAs) was started. After nine months of treatment with SSAs, she continued having severe headache, the blood pressure was well controlled, but GH secretion was only partially controlled with insulin-like growth factor-1 (IGF-1) level still above the normal value. The MRI scan showed the same pituitary tumor remnant with supra- and parasellar right extension and also multiple fronto-temporo-parietal subcortical lesions that could suggest in the clinical context cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). According to a pregenetic screening tool, the Pescini Scale, the patient had a 19 points score, which is highly suggestive for CADASIL, an inherited cerebrovascular disease due to mutations of the Notch3 gene at the chromosome locus 19p13. In the absence of genetic testing, an alternate way to prove small vessels disease, the skin biopsy, was performed. Electron microscopy showed granular osmiophilic material (GOM) surrounding the vascular smooth muscle cells on that are pathognomonic for the disease. Our report underscores the importance of repeated investigations even in patients with apparently obvious explanations of their condition since they may have multiple diseases with the same presenting clinical signs.

Obesity and eating behaviors in school children and adolescents -data from a cross sectional study from Bucharest, Romania.

BACKGROUND: Epidemiological data on obesity prevalence are scarce in Romanian population. Consequently, the aim of our study was to evaluate the prevalence of obesity and unhealthy behaviors among school children and adolescents from Bucharest, Romania. METHODS: Cross-sectional study, 866 participants (53.2% girls, 46.8% boys, age range 6-18 years), selected by systematic sampling with probability-proportionate-to-size from all Bucharest's schools. MEASUREMENTS: height, weight and a questionnaire to collect information about life style and eating behavior. Nutritional status was established based on World Health Organization recommendations (WHO), International Obesity Task Force (IOTF), Center for Diseases Control (USA-CDC) cut off values and local standards, respective. RESULTS: The prevalence of overweight (including obese) and obesity alone based on different standards, was 31.6% and 11.4% (WHO), 24.6% and 6.2% respectively (IOTF), 25.2% and 10% (USA-CDC), 22.3% and 12.5% (local standards). When using local standards (weight only based), the obese subjects proportion among overweight children raised questions regarding the appropriateness of these standards. Overweight (including obese) prevalence was significantly higher among the boys versus girls: 36.2% vs. 27.6%, ( OR 1.5; 95% CI 1.12-2.03; p value = 0.006) and among the 6-10.9 years vs. 11-17.9 age group, (40.7% vs 26.6%). Almost all the participants (95%) reported at list one unhealthy eating behavior but no significant relationship was found with overweight or obesity only. CONCLUSIONS: This first epidemiological study of obesity prevalence in school children and adolescents showed that 11.4% of Bucharest's children and adolescents were obese by WHO classification, 6.1% by IOTF cut off values and 10% by CDC classification. Younger children and the boys were more affected no matter which standard we used. In spite of unsignificant relationship to the adiposity status, our data showed a high prevalence of unhealthy eating behaviors reported by the participants. Particular aspects of the overweight versus obesity prevalence, after applying local standards, suggests that international recognized algorithms should be used for constant epidemiological evaluation instead of establishing local criteria.