Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency

Adrenogenital syndrome is commonly associated with a deficiency in 21-hydroxylase but can be present in other rare enzymatic blocks. We report here the case of a 31-year-old man who presented with bilateral painful testicle lesions leading to bilateral partial orchiectomy as they were suspected for malignancy. These lesions were finally identified as benign testicle adrenal rest tumors (TARTs), and the patient was actually belatedly diagnosed with primary adrenal insufficiency due to 2 mutations of the CYP11A1 gene encoding the cholesterol side-chain cleavage enzyme (P450scc); the mutations were 940G > A (p.Glu314Lys) and c.1393C > T (p.Arg465Trp). The same mutations were found in his 29-year-old sister, who was then also diagnosed for primary adrenal insufficiency. Deficiency in P450scc is an extremely rare genetic autosomal recessive disorder with around 40 described families in the literature and 30 different mutations. As the diagnosis of delayed onset of P450Scc mutation is difficult, this case illustrates the need for a systematic endocrinological assessment in any case of bilateral testicle lesions, thus avoiding unnecessary surgery.

Nerve Sparing Reduction Clitoroplasty in a Case of Congenital Adrenal Hyperplasia

Adrenogenital syndrome, or Congenital Adrenal Hyperplasia, is caused by a congenital insufficiency of the enzyme 21-hydroxylase, which is responsible for converting cortisol into cholesterol. Because of virilizing effect of androgens and its over- production, girls develop clitoral hypertrophy or Clitoromegaly. Clitoromegaly is an embarrassing condition, causing psychological stress to young girls and, hence requiring intervention. The goals of clitoroplasty are to achieve normal genital anatomy and to preserve tactile sensation with a satisfactory sexual response. We present a case of Adrenogenital syndrome with Clitoromegaly managed by reduction Clitoroplasty, preserving the dorsal neurovascular bundle and extensive network of nerves around the corpora to the glans and there by preserving the tactile sensation of the clitoris.

Dysgerminoma in Pseudohermaphroditism: A Case Report

Female pseudohermaphroditism occurs when normal ovaries are present but the body is partially masculinized as individuals with congenital adrenal hyperplasia, also known as adrenogenital syndrome. This is an inherited disorder that accounts for about one-half of all cases of human intersexuality. We report a case of a 24-year-old male presenting with abdominal pain and increasing abdominal distension for one month. Computed tomography scan revealed large multiloculated heterogeneously enhancing solid –cystic lesion in the abdominopelvic cavity– malignant gonadal mass, gross ascites, and visualization of the poorly formed elongated uterus-like structure in the recto-uterine pouch and phallus-like structure with non-visualization of bilateral testes. Histopathology report suggested germ cell tumor and immunohistochemistry confirmed the diagnosis of dysgerminoma. Since dysgerminoma is sensitive to platinum-based chemotherapy patient was subjected to chemotherapy and the patient showed a good response. The patient underwent exploratory laparotomy with right salpingo-oophorectomy with omentectomy and appendectomy.

COMPLEX ORPHAN PATHOLOGY: COMORBIDITY OF MUCOVISCIDOSIS AND CONGENITAL DYSFUNCTION OF ADRENAL GLANDS CORTEX (REFERENCES REVIEW AND OWN RESEARCH)

The aim: The clinical case was studied: comorbidity of mucoviscidosis and congenital dysfunction of adrenal glands cortex. Materials and methods: The clinical case of combined orphan pathology – cystic fibrosis and congenital dysfunction of adrenal glands cortex (adrenogenital syndrome) has been described. Clinical case: A 2-month child has been diagnosed with mucoviscidosis, of a mixed form, which was genetically confirmed. The proband and the father were found to be heterozygotes for the F508del mutation of the CFTR gene (the father suffers from mucoviscidosis). Congenital dysfunction of the adrenal glands, a viral form, was diagnosed when he was three years old. The child is currently receiving: Creon 100 000 units per day with eating, Colomycin 1 vial per day, Pulmozyme 2.5 mg/2.5 ml daily in the morning for inhalations, Ursofalk 600 mg every day constantly, Hydrocortisone 50 mg/day. Conclusions: This clinical case can be attributed to rare, as most such pathological conditions are usually diagnosed in maternity homes along with the prescription of appropriate therapy. This is an example of late diagnosis of the viral form of congenital adrenal dysfunction against the background of cystic fibrosis, indicating the need for earlier detection and timely introduction of substitution therapy to improve favourable prognosis for a disease.

Sporting success among women with different set of sex characteristics

Success of sportswomen closely connects with peculiarities of formation of characteristics dependent on sex. Sexual differentiation of the brain from the intrauterine period is particularly important. Male sex hormones (androgens) play a special role in this process. Congenital adrenogenital syndrome forms prenatal increase of their concentration. This adrenal pathology in the mother or inherited in the girl creates a pathological state of hyperandrogenia (excessive content of androgens). This pathology forms a maskulinization (similar to a man) of the state of the female organism. Such a feature begins with a prenatal period followed by activation especially during puberty. Maskulinization of the girl's body is an important prerequisite for sports from childhood with subsequent development in adulthood.

A new allelic variant of periventricular nodular heterotopia type 7 in a patient with adrenogenital syndrome due to a 21-hydroxylase deficiency

Представлено описание клинико-генетических характеристик ребенка 2 лет с двумя моногенными заболеваниями: сольтеряющей формой адрено--генитального синдрома с аутосомно-рецессивным типом наследования и узловой гетеротопий мозга 7 типа, наследующейся аутосомно-доминантно, диагностированных с использованием двух различных молекулярно-генетических методов. Наличие адрено-генитального синдрома диагностировано в первые дни жизни на основании типичных клинических проявлений и подтверждено путём прямой ДНК-диагностики, в результате которой обнаружена гомозиготная мутация p.R356W в гене CYP21А2. Наличие второго моногенного заболевания предполагалось на основании диагностики грубой задержки психомоторного и речевого развития и аномалий строения головного мозга, обнаруженных при проведении магнитно-резонансной томографии. При секвенировании клинического экзома выявлена ранее не описанная нуклеотидная замена с.2015С>T (р.W672I) в гене NEDD4L. Патогенные варианты в домене HECT данного белка приводят к перивентрикулярной узловой гетеротопии 7 типа (OMIM:617021). Анализ данного варианта методом прямого секвенирования по Сэнгеру в семье показал его происхождение de novo. We report 2-year-old girl with two monogenic diseases - adrenogenital syndrome with autosomal recessive inheritance mode and periventricular nodular heterotopia type 7 with autosomal dominant, diagnosed by two different molecular genetic methods. The presence of adreno-genital syndrome diagnosed in the first days of life based on typical clinical manifestations and the homozygous mutation was detected p.R356Wby direct DNA testing CYP21А2 gene. The presence of the second monogenic disease was proposed base on the observation the severe delay of psychomotor and speech development and abnormalities of the brain structure detected by MRI. Clinical exome sequencing identified previously not described single nucleotide substitution c.2015С>T (p.W672I) in NEDD4L gene. Pathogenic variants in HECT domain of this protein lead to periventricular nodular heterotopia type 7 (OMIM:617021). Analysis of segregation this variant in the family by direct sequencing of Sanger showed its origin de novo.

Prenatal ultrasound diagnosis of a rare case of hypospadias scrotal form with papillomatosis of the posterior urethra

A case of prenatal ultrasound diagnosis of hypospadias, scrotal form with papillomatosis of the posterior urethra at 36 weeks of gestation is presented. Only the scrotal form of hypospadias was detected prenatally. The formation, which localized between the split of scrotum and proceeded from the posterior urethra, had a papillomatous structure. The neoplastic process of this mass was excluded. The diagnosis was made in postnatal period with the help of additional research methods: newborn karyotype, neonatal screening for adrenogenital syndrome, diagnostic cystoureterography, histological examination and immunohistochemical analysis of tumor formation. The pathology of the external genitalia was isolated. No changes in the newborn's karyotype were detected.