Case Report:clinical experience of bilateral giant pediatric Testicular adrenal rest tumors with 3 Beta-Hydroxysteroid Dehydrogenase-2 family history.

BACKGROUND: We reported a patient with Testicular adrenal rest tumors(TARTs) caused by congenital adrenal hyperplasia(CAH). TARTs occur frequently in CAH population with 21-hydroxylase deficiency(21-OHD). There are few reports of TARTs with 3ß-hydroxysteroid dehydrogenase deficiency-2 (3ß-2HSD).Furthermore,gaint TARTs are rarely mentioned in reported cases involving affected siblings. CASE PRESENTATION: A 14-year-old male patient was admitted by congenital adrenal hyperplasia with progressively increasing bilateral testicular masses.The Patient and his elder brother had been performed mutational and chromosome analysis and biopsy. Hormonal and anthropometric measurements were performed during endocrine treatments. We successfully performed surgery and excised two 83mm×46mm×44mm and 74mm×49mm×31mm tumors. Our pathology and immunochemistry tests have proven TARTs in patient. At first, both siblings received regular doses of hydrocortisone and fludrocortisones and tumor size regressed. During the one-year irregular intake due to Covid-19 pandemic, endocrine treatment became insensitive and tumor size slowly increased. The gene analysis reported two novel mutations C.776 C>T and C.674 T>A. The C.776 C>T is from father and has been reported. The C.674 T>A inherited from mother and cannot found in gene library and may related to TARTs. CONCLUSIONS: This case illustrates inadequate hormone therapy could cause tumor enlargement. It is essential to seek for ultrasound examination once suspected scrotal mass occurred.It is necessary to adjust endocrine medicine or adopt surgery in refractory gaint TARTs. And presence of tunica vaginalis cavity may indicate the severity of TARTs in surgery.

Gonadal changes in children and adolescents with congenital adrenal hyperplasia.

OBJECTIVES: Testicular adrenal rest tumours (TARTs) are a common cause of infertility in males with congenital adrenal hyperplasia (CAH). Ovarian adrenal rest tumours (OARTs) and polycystic ovaries (PCO) can impair ovarian function in female patients with CAH. We aim to detect gonadal changes in children and adolescents with CAH. METHODS: This study was conducted on 50 CAH patients (30 females and 20 males) with 21-hydroxylase deficiency (21-OHD), with a mean age of 10.35 ± 2.36 years. Testicular ultrasonography and pelvic magnetic resonance imaging (MRI) were done in males and females respectively. Glucocorticoid doses and biochemical data were obtained from the patients' medical records. RESULTS: TARTs were detected in 10/20 male patients (50 %). There was a significant relation between presence of TARTs, body mass index (BMI) standard deviation score (SDS), and bone age (p=0.017 and 0.023; respectively). There was no significant relation between presence of TARTs, laboratory parameters, or treatment received (p>0.05). Of those subjected to genetic analysis, 48 % had I2 splice (c.290-13A/C>G) followed by P30L (c.89C>T) (40.7 %). P30L (c.89C>T) was the most common allele among the patients with TARTs (42.9 %). There was no significant relation between presence of TARTs, the genotype, alleles, or the genotype groups (p>0.05). Only one female patient had radiological evidence of bilateral polycystic ovaries and none had OARTs. CONCLUSIONS: The prevalence of TARTs in our study was high (50 %). Screening for TARTs in males with CAH is crucial; however, routine ovarian imaging in CAH females is not indicated unless ovarian dysfunction is present.

[Testicular adrenal rest tumors (TARTs) and adrenogenital syndrome (AGS) - Do not mix up with malignant testicular tumors!] / Testikuläre adrenale Resttumoren beim adrenogenitalen Syndrom.

Testicular adrenal rest tumors and adrenogenital syndrome (AGS) - Do not mix up with malignant testicular tumors! Testicular adrenal residual tumors (TARTs) frequently occur in men with adrenogenital syndrome. Without knowledge of AGS, diagnosis is problematic due to difficult differentiation from other testicular tumors. However, early treatment is crucial for maintaining or regaining fertility, among other aspects. This article provides background knowledge for general practitioners.

Possibilities of valorization of Gnetum spp leaves in modern gastronomy: Production and characterization of new vegetable tarts and salads.

Gnetum spp is a green creeper plant abundantly found in the Central African forests. Their leaves are eaten as vegetable by inhabitants. In order to valorize this vegetable in modern gastronomy, a survey was carried out in three towns of Cameroon to evaluate its importance in the feeding habits. The leaves were also sliced in two different forms, precooked, spin-dried and used for Gnetum tarts and salads production. 50, 100 and 150 g of thin sliced precooked leaves were used to prepare three salads and three tarts, keeping the other ingredients constant. Three additional tarts were prepared similarly using thinnest sliced precooked leaves. The final products were analyzed in terms of physiochemical, nutritional and sensorial properties. More than 96.9% of people investigated eat Gnetum leafy vegetables at least once per month. The survey study indicates that the transformation of Gnetum is mostly done by people within the age of 20 to 40 years old. Results of the physicochemical analyses showed that the total protein, lipid and carbohydrate contents increased in general with the increasing of the Gnetum leaf quantities used for preparation. The crude fiber contents of salads and tarts ranged from 52.00 ± 0.68 to 62.66 ± 1.26 and 29.33 ± 0.67 to 33.66 ± 0.47 g/100 g DW respectively. They were positively correlated with the quantity of Gnetum leaves used. The total phenolic contents, also increased significantly (p < 0.05) with the quantity of Gnetum leaves, from 182.45 ± 1.69 to 493.52 ± 2.10 mg/100 g DW for the salad and from 86.69 ± 4.08 to 283.21 ± 6.79 mg/100 g DW for the tart. The calculated energy density of tarts and salads permitted to classify these food products as low and high energy density foods respectively. The nutritional densities of produced tarts oscillated from 0.27 to 0.3 and that of salads from 0.58 to 0.71. With their nutritional values and the significant amount of fibers, Gnetum tarts and salads could be good new recipes to valorize the Gnetum leafy vegetables.

Prevalence and ultrasound patterns of testicular adrenal rest tumors in adults with congenital adrenal hyperplasia.

BACKGROUND: Testicular adrenal rest tumors (TARTs) are benign neoplasms affecting patients with congenital adrenal hyperplasia (CAH). The prevalence of TART in adult patients with CAH is not well known. Ultrasonography (US) is the main tool for diagnosing TART and the role of contrast-enhanced US (CEUS) is never investigated. The aim of this study was to evaluate the TART prevalence in adults with CAH, by stratifying patients according to disease phenotype and assessing the diagnostic performance of US, color Doppler (CD) US and CEUS. METHODS: Male patients >16 years old with certain diagnosis of CAH who underwent US for TARTs, between December 2015 and September 2019 were prospectively enrolled. The control group included patients without CAH affected by testicular lesions at US other than TARTs. RESULTS: TARTs were identified in 16 of 52 patients (31%), of whom 15 (93.8%) displayed the salt-wasting (SW) form (P<0.001). The prevalence of TARTs in patients with the SW form was 54%. One patient with the non-classic (NC) form (6%) showed TART (likely the first documented case). The mean age of patients upon detection of TARTs was significantly younger compared with the control group (P<0.001); moreover, TARTs were bilateral in 15/16 patients (93.8%; P<0.001) and the largest lesion was more frequent in the medium third of testis in the TART group (87.5%), statistically different from the control group (P=0.013). CONCLUSIONS: TARTs almost exclusively affected patients with the SW form of CAH. Age at diagnosis and bilateralism are useful factors for achieving a correct diagnosis of TARTs in CAH adult patients.

Typical characteristics of children with congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency: a single-centre experience and review of the literature.

Background 11ß-hydroxylase deficiency (11ßOHD) is a rare disease representing the second most common cause of congenital adrenal hyperplasia (CAH) (5-8%) with an incidence of about 1:100,000. In contrast to 21-hydroxylase deficiency (21OHD), 11ßOHD is not included in neonatal screening programmes. The objective of this study was to demonstrate the typical features of male patients with 11ßOHD. Methods Clinical, biochemical and radiological data of patients with 11ßOHD were analysed in this retrospective single-centre analysis. Results Six male patients of four unrelated families with 11ßOHD were identified (0.1-13.5 years of chronological age [CA] at diagnosis). The predominant symptoms were arterial hypertension, tall stature and precocious pseudopuberty. Bone ages (BAs) were remarkably advanced at diagnosis in four index patients (median difference BA-CA: 5.5 years, range 1.5-9.2 years). Homozygous mutations were identified in exon 7 (c.1179_1180dupGA [p.Asn394Argfs*37]) and exon 8 (c.1398+2T>C) of the CYP11B1 gene leading both to a complete loss of function. The latter mutation has not yet been described in databases. 11ßOHD was identified by the measurement of 11-deoxycortisol in a newborn screening card of one patient retrospectively. Testicular adrenal rest tumours (TARTs) were detected in three patients at 3.7 years, 11 years and 14.4 years. Conclusion The diagnosis of CAH due to 11ßOHD is delayed and should be suspected in children with arterial hypertension, tall stature and precocious pseudopuberty. Patients may develop TARTs as early as infancy. 11ßOHD should be included in newborn screening programmes, at least in newborns of index families, to allow early diagnosis and the start of treatment to reduce morbidity.

Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life.

Classic forms of 21-hydroxylase deficiency (21OHD) are usually diagnosed at birth by salt wasting or precocious puberty in male patients. Here we report the case of a 32-year-old male patient who presented with azoospermia and bilateral testicular tumors. He was referred to our endocrine unit after testicular surgery. His gonadotropins were undetectable. Liquid chromatography-tandem mass spectrometry revealed a high serum progesterone level, high 17-hydroxyprogesterone (17OHP) (255 ng/mL), and high levels of 17OHP metabolites, suggesting a classic form of 21OHD. His blood pressure was normal. Molecular analysis showed a homozygous large 21-hydroxylase gene (CYP21A2) conversion. Furthermore, an adrenal CT scan revealed voluminous, heterogeneous bilateral and asymmetric adrenal masses containing calcifications. Our case report illustrates the fact that a classic form of 21OHD can be diagnosed in late adulthood, manifested by azoospermia and large adrenal tumors, associated with elevated 17OHP.

Testicular adrenal rest tumor screening and fertility counseling among males with congenital adrenal hyperplasia.

BACKGROUND: Reduced fertility is a common potential problem among males with congenital adrenal hyperplasia (CAH), with nearly half experiencing impaired sperm production. The major cause of oligo/azoospermia in CAH is testicular adrenal rest tumors (TARTs). Studies indicate that ultrasound screening for TARTs should begin during childhood, yet it remains unclear whether boys with CAH are routinely screened for TARTs and/or counseled about infertility risk and potential interventions such as fertility testing and/or preservation. OBJECTIVE: The purpose of this study was to examine TART screening and fertility counseling practices among boys with CAH. STUDY DESIGN: An IRB-approved retrospective chart review was conducted of all males with ICD-9/10 codes for CAH (2007-2016) at a large pediatric academic center to examine: age and indication for diagnosis; age at first and last documented pediatric endocrinology and urology visit; history of ultrasound examinations; and documentation of fertility counseling. RESULTS: Forty-six patients were included, of whom 38 had 21-hydroxylase deficiency. Median age at diagnosis was 2 weeks (range 7 days-10 years). Median age at the most recent pediatric endocrinology clinic visit was 14 years (range 2-42 years). Twenty-nine patients were >11 years old (63% of the sample) at the time of the study and 14 of these were >18 years old (30% of the sample). Seven patients (15%) had a screening ultrasound at some point in their care, of whom three had TARTs. Fertility was mentioned in the records of six subjects (13% of the sample). Six of the subjects (13%) had any mention of fertility in their records. None of the patients had biochemical testing or semen analysis to assess gonadal function, and none were offered fertility preservation. Only one patient was seen by a pediatric urologist. DISCUSSION: Despite the limitations of a single-center retrospective design, our findings highlight that TART screening and fertility counseling remain underutilized in boys with CAH. There is a need for increased awareness and development of practice guidelines within pediatric urology and endocrinology to address this common and understudied problem. CONCLUSION: In addition to a screening ultrasound in puberty and consideration of semen analysis after puberty, these boys may benefit from seeing a pediatric urologist independently or in an interdisciplinary program. Boys with CAH and their families should be educated about infertility risk and potential interventions, with the goal of improving reproductive outcomes in this population.