Sexual function and health status in adult patients with Congenital Adrenal Hyperplasia.

INTRODUCTION: Congenital Adrenal Hyperplasia (CAH) is the most common reason for undifferentiated genital appearance in new-borns. Psychosexual outcome in women with CAH has been rarely evaluated, but it seems to be one of the most important factors determining the indications for the surgical treatment of CAH. OBJECTIVE: This is to assess sexual function and the health status (HS) in adult females with CAH who had feminizing genitoplasty in childhood. MATERIAL AND METHOD: The protocol was approved by the Ethical Committee, and the hospital database was searched for patients with CAH who had genitoplasty between 1975 and 2000. 57 adult patients were identified, and 9 (18%) patients agreed to participate in the study. Mean age at operation was 5.4 years, and mean follow-up duration was 10.9 years. The Female Sexual Function Index (FSFI) was used to evaluate sexual function, and the 36-item Short Form Health Survey (SF-36) was used to evaluate their health status (HS). A FSFI score < 26,55 was classified as Female Sexual Dysfunction (FSD). The control group consisted of 10 adult female volunteers of comparable age, without any oncological or chronic diseases. Fisher's exact test was used for statistical analysis. RESULTS: All patients in the CAH group had female gender identity. One was homosexual, and one reported not having any sexual activity. In the control group, all patients had female gender identity. All were heterosexual and one reported not having any sexual activity. The sexual function in five domains and total score were similar in both groups. More pain was reported in the CAH group as compared with the control group, and it was statistically significant. In the CAH group, 5/9 patients had FSD. In the control group, 4/10 patients had FSD. The difference was statistically insignificant (p = 0.66). Mean SF-36 score in the CAH group was 47.1 points, while it was 46.7 points in the control group. The testosterone level in all CAH patients was within the normal range (0.13-1.1 ng/ml). The 17-OH progesterone level was above normal range in 5/9 (55.6%) patients with CAH. All women in the CAH group were hormonally treated. In the control group, all patients had a normal testosterone level (0.15-0.68 ng/ml); the 17-OH progesterone level was in normal range in this group. DISCUSSION: We compared our results with the literature data, which used the same questionnaires as in our study. CONCLUSIONS: Health status and sexual function in the traceable CAH patients didn't differ from the control group.

Cushing disease in children and adolescents - assessment of the clinical course, diagnostic process, and effects of the treatment - experience from a single paediatric centre.

INTRODUCTION: Adrenocorticotropic hormone-dependent Cushing syndrome, known as Cushing disease (CD), is a rare disease in paediatric patients, the signs and symptoms of which differ from those seen in adult patients. AIM OF THE STUDY: The objective of the study was to present the diagnostics and treatment results of CD in children and adolescents. MATERIAL AND METHODS: We included four consequent patients in the study, 7-15 years old, with CD confirmed by laboratory tests and finally by histology ex-aminations after surgery. The data were retrospectively retrieved from the medical records of all the patients from the years 2012-2018. RESULTS: The median time from the onset of clinical symptoms to CD diagnosis was 1.5 years. All patients presented with rapid weight gain ac-companying growth retardation, and behavioural, puberty, or menstruation disorders. The diagnostic process was carried out in accord-ance with the current standard. Diagnostic difficulties regarded the cyclic CD. All patients underwent transsphenoidal complete resection of the pituitary adenoma, and they all required transient glucocorticoid substitution for a period that correlated with the time from onset of symptoms to diagnosis. All subjects achieved normalisation of hormonal results and resolution of clinical symptoms, but all are still obese. Currently the patients are in remission, but there is a suspicion of the regrowth of the tumour mass in the eldest patient. CONCLUSIONS: In each case of the coexistence of growth velocity inhibition (not necessarily short stature) with the weight gain (not necessarily obesity) and the appearance of hyperandrogenism and depressive-anxiety disorders, biochemical diagnostics of CS should be performed. Obesi-ty could be a chronic complication of CD in childhood, even after effective neurosurgery treatment.

Intima media thickness of common carotids and abdominal aorta in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.

BACKGROUND: Patients with congenital adrenal hyperplasia (CAH) are at risk of vascular and metabolic complications due to steroid therapy and increased adrenal androgens exposure. OBJECTIVE: of the study was to evaluate the relation between patient's genotype and (1) intima media thickness of abdominal aorta (AIMT) and common carotid arteries (CIMT) and (2) metabolic profile. MATERIAL AND METHODS: In 71 patients (27 boys) aged from 1.5 to 17.9 years, with 21-hydroxylase deficiency (21OHD) CAH: 9 with nonclassic (NC) CAH, 62 with classic CAH: 10 with simple virilising (SV) and 52 with salt wasting (SW) CAH (13-Del/Del, 8-Del/I2G, 7-I2G/I2G and 24-other genotypes), and in 77 lean and 36 normotensive obese, age and gender matched controls, assessment of CIMT and AIMT as well as hormonal and biochemical evaluation were performed. RESULTS: The highest AIMT was observed in SW Del/Del and I2G/I2G groups and the highest CIMT in SV CAH subgroup. CIMT and AIMT correlated significantly with testosterone and free androgen index (FAI), and were significantly higher in patients with advanced bone age and obesity independent. Significantly higher HOMA, testosterone and FAI values were found in SV CAH. CONCLUSION: In CAH patients CIMT and AIMT are influenced by androgens and obesity independent. In the examined group vascular and metabolic abnormalities are pronounced more in certain subgroups of CAH (SV and SW: Del/Del) and in patients with advanced bone age.

Circadian blood pressure profiles and ambulatory arterial stiffness index in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.

OBJECTIVE: Lifelong steroid therapy and exposure to adrenal androgen excess in 21-hydroxylase deficient (21-OHD) congenital adrenal hyperplasia (CAH) children and adolescents may modify circadian blood pressure profile and result in vascular complications. The objective of the study was to evaluate vascular abnormalities in 21-OHD children and adolescents in relation to their genotypes. DESIGN: A cross-sectional study conducted at a tertiary referral center. PATIENTS: Seventy patients with 21-OHD CAH (27 boys), aged from 3 to 17.9 years: 9 with nonclassic CAH, 61 with classic CAH: 10 with simple virilising (SV) and 51 with salt wasting CAH (13-Del/Del, 8-Del/I2G, 7-I2G/I2G and 23-other genotypes). MAIN OUTCOMES MEASURES: The assessment of systolic and diastolic BP (SBP, DBP) loads, night dip% and arterial ambulatory stiffness index (AASI) in 21-OHD CAH patients.

Testicular adrenal rest tumors in congenital adrenal hyperplasia: a case report and literature overview.

OBJECTIVE: In this paper, the etiology, differential diagnosis, and therapy of testicular adrenal rest tumors (TARTs) is presented based on a patient presentation and an overview of the most recent literature concerning this subject. METHODS: Retrospective analysis of the clinical and biochemical data of an 18-year-old male patient diagnosed at the age of 2 weeks with the classic salt-wasting form of congenital adrenal hyperplasia that has been monitored in the pediatric and adolescent outpatient department since the age of 4 years. RESULTS: The results of adrenal hormone tests (17-hydroxyprogesterone, 17-ketosteroids, and pregnanes) had been unsatisfactory, particularly over the previous 5 years. Scrotal ultrasound detected TARTs bilaterally. After increasing the dose of hydrocortisone and introducing dexamethasone, considerable regression of the tumors was noted. CONCLUSION: Lack of complete regression of the lesions is caused by fibrosis and is probably due to decreased sensitivity of adrenocorticotropic hormone and angiotensin II receptors in this tissue.

Atypical Clinical Presentation of ACTH-Dependent Cushing's Syndrome in a Patient Treated with Retinoic Acid.

OBJECTIVE: The leading signs and symptoms of Cushing's syndrome (CS) in adolescents, which depend on the duration and the severity of hypercortisolemia, are: a decrease in growth velocity with an increase in body weight, redistribution of fat tissue (round face), and less commonly, acne due to hyperandrogenization. A widely used antiacne drug, retinoic acid, can change the clinical presentation of CS and delay the diagnosis. METHODS: We report an atypical presentation of adrenocorticotropic hormone (ACTH)-dependent CS in a patient treated with retinoic acid due to severe acne. RESULTS: Three months after the discontinuation of retinoic acid treatment (at a dose of 40 mg daily for 6 months, with a 4 month break and then for an additional 6 months), a 17.5-year-old male presented with short stature (-3.0 SD), muscle weakness, difficulty concentrating, insomnia, and depressed mood. Body weight (body mass index, 22 kg/m2), fat tissue distribution, pubertal status (testicular volume equal to 20 mL, pubarche V, axillarche present), and blood pressure were normal, and the patient's bone age was equal to his chronologic age. His bone mineral density was decreased (Z-score, -3.5 SD). The morning serum cortisol level was normal (8:00 AM, 171.9 ng/mL) and did not decrease in the evening (8:00 PM, 178.9 ng/mL) or after 1 mg of dexamethasone (100.4 ng/mL). The patient's urinary free cortisol was elevated on 3 occasions (274.5, 217.3, and 253.7 µg/day). Increased ACTH levels in the morning (97.5 to 141.1 pg/mL) and postcorticoliberine (577.6 pg/mL) pointed to ACTH-dependent CS. A magnetic resonance imaging scan of the pituitary gland confirmed the presence of a microadenoma. CONCLUSION: Retinoic acid treatment may alter the clinical presentation of ACTH-dependent CS and consequently delay the diagnosis.

Transient isolated scrotal hair development in infancy.

Isolated scrotal hair development in infancy is a rare disorder that has not been well characterized in the literature. We present a retrospective analysis of 5 male patients referred to the Endocrine Department at the age of 3 to 6 months for the assessment of isolated scrotal hair development. There were no other signs of androgenization and testes were of normal infant size. Three mothers were receiving dydrogesterone during pregnancy and one of them was also receiving desogestrel during breast-feeding. All infants were developing well. In all boys, complete regression of scrotal hair was noted after 4 to 7 months of observation. It seems that the condition is benign and probably occurs in boys with increased response of cells within hair follicles to raised androgen levels during "mini puberty" of early infancy. Nevertheless, all infants with signs of androgenization need urgent full investigation and probably further follow-up until puberty.

[Neurofibromatosis type I--the pediatric endocrinologist's point of view]. / Nerwiakowlókniakowatosc typu 1 z punktu widzenia endokrynologa dzieciecego.

AIM OF THE STUDY: A retrospective analysis of endocrine disorders in patients with neurofibromatosis type I consulted in the Children's University Hospital of Krakow in the period 2007-2010. MATERIAL AND METHODS: The analysis included 60 patients (33 girls, and 27 boys) aged 1.2-32 years, mean 11.6 years. The patients were followed up by many health care professionals: neurologists (EEG), neurosurgeons (CT, MRI), ophthalmologists, psychologists, ENT specialists, anthropologists (the assessment of body height and weight), geneticists, endocrinologists and gynecologists (the assessment of puberty according to Tanner scale, diagnostics of short stature, precocious puberty), and cardiologists (echo-cardiography). RESULTS: In the analyzed group of 60 patients, 46 were consulted by geneticists, 20 by endocrinologists, 19 by neurologists and cardiologists. The imaging of the central nervous system (CNS) was performed in 37 patients. Twenty-two patients presented with familial NF-I, 13 with sporadic NF-I, and in 25 patients, the family history was unavailable. Growth disorders were present in 27.7% of patients (13/47) that were referred to the anthropometric assessment. Short stature (height < or = (-) 2 SD) was recognized in 9/47 of children (19.1%). Tall stature (> (+) 2 SD) was recognized in 4/47 of patients (8.5%). All of the patients with tall stature presented with central precocious puberty (PD). Precocious puberty was also recognized in two children with normal stature. In all cases of PD, optic chiasm gliomas were recognized. Generally, organic CSN disorders were detected in 24 patients (63.2%). MRI revealed optic chiasm gliomas in 8 patients, 4 presented with gliomas of one or two optic nerves, 10 presented with hyperintensive areas on T2-weighted images, without enhancement after contrast injection, that may suggest the diagnosis of hamartoma of the CNS, and 2 with hydrocephaly. CONCLUSIONS: 1. The most common disorders of the somatic development revealed in NF-I patients are growth disorders: short stature and tall stature caused by central precocious puberty. 2. In view of the incidence of endocrine disorders in patients with NF-I, the authors suggest an endocrine consultation in each case of NF-I.

[Disorders of lipid metabolism in adolescents with simple obesity]. / Zaburzenia metabolizmu lipidów u mlodziezy z otyloscia prosta.

BACKGROUND: Obesity affects approximately 45 millions of children worldwide. Some of them present with secondary dyslipidemia that leads to premature atherosclerosis. AIM OF THE STUDY: 1) Assessment of the frequency and type of dyslipidemia in obese adolescents. 2) An attempt at defining risk factors of atherogenic lipid profile in obese adolescents. MATERIAL AND METHODS: In 146 (84 girls/62 boys) obese (mean BMI SDS 4.95, 95% CI 4.62-5.29) adolescents (age 10-18, mean 14.7 years), the levels of total cholesterol (TC), low-density lipoprotein cholesterol (LDLc), high-density lipoprotein cholesterol (HDLc) and triglicerydes (TG) were measured. Atherogenic dyslipidemia was defined as a high TG level with a concomitant low HDLc level. Standard oral glucose tolerance test was performed with the assessment of fasting and after 120' post-load of 75 g of glucose and insulin levels; the insulin resistance index HOMA-IR was calculated. RESULTS: The mean values of the lipid fractions were in normal ranges: TC 4.64 mmol/L (95% CI 4.48-4.8), LDLc 2.86 mmol/L (95% CI 2.73-2.99), TG 1.4 mmol/L (95% CI 1.3-1.5), and HDLc 1.16 (95% CI 1.1-1.2). However, in 50.69% of the patients (45.24% girls and 58.06% boys), elevated levels of TC, LDLc, and TG were observed respectively in 23.29%, 17.81% and 37.67%, and low HDLc in 15.07% of patients. A total of 10.96% of the patients presented with coexistence of a low HDLc and a high TG. In 26.7%, dyslipidemia was followed by arterial hypertension. There was a reverse correlation between a low HDLc value and BMI SDS [R (-) 0.22, p < 0.05] and not with TC, LDLc, and TG. The relative risk of abnormal lipid profile occurrence was higher in obese patients with insulin resistance (OR 1.72; 95% CI 0.8-3.4; p = 0.12), being significant only for boys (OR 3.67; 95% CI 1.1-12.1; p = 0.03). There was a reverse correlation between fasting insulin level, HOMA-IR and HDLc [R (-) 0.2; p < 0.05; R (-) 0.2; p < 0.05) respectively], as well as TG (R 0.26 ; p < 0.05; R 0.26; p < 0.05, respectively), and between post-load insulin level and TG (R 0.24; p < 0.05). CONCLUSIONS: 1) Lipid disorders occur in about one-half of obese adolescents, of which 10% presents with atherogenic lipid profile. 2) One of the most important risk factors of atherogenic lipid profile occurrence is insulin resistance, especially in boys. The severity of the obesity (BMI-SDS) is of lesser importance.