A Rare Cause of Delayed Puberty in Two Siblings: A Case Report

2020 ◽  
Vol 22 (6) ◽  
Author(s):  
Pınar Kocaay
Keyword(s):  
Autosomal Recessive Disorder ◽  
Ambiguous Genitalia ◽  
Capital City ◽  
Delayed Puberty ◽  
Sex Characteristics ◽  
Primary Amenorrhea ◽  
Hydroxylase Deficiency ◽  
Irreversible Damage ◽  
Delay In Diagnosis ◽  
Chromosome Pattern

Introduction: 17 alpha-hydroxylase deficiency (17-OHD) is an infrequent autosomal recessive disorder in adrenal and gonadal steroidogenesis due to the CYP17A1 defect. Affected girls are characterized by delayed puberty, absence of secondary sex characteristics at puberty, and primary amenorrhea. Affected boys show female or ambiguous genitalia. Hormone imbalances result in varying degrees of hypertension and hypokalemia. The increase in corticosterone levels prevents the development of typical adrenal insufficiency symptoms. Glucocorticoid and sex steroid supplementation is the preferred treatment. Case Presentation: We reported two phenotypically female siblings, aged 14 and 25 years, with the 17-OHD from Ankara, the capital city of Turkey. The younger child had a 46,XX karyotype and the older had a 46,XY chromosome pattern. Another feature of the second patient (aged 25 years), was the presence of a large myelolipoma in her right adrenal gland. Conclusions: 17 alpha-hydroxylase patients are usually diagnosed late, and unlike patients with other forms of congenital adrenal hyperplasia, hypertension is the major finding, and 10% - 15% of patients have normal blood pressure at diagnosis. The delay in diagnosis causes hypertension and renovascular changes, psychological problems, osteoporosis, and irreversible damage to breast tissue.

Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report

2015 ◽  
Vol 28 (1-2) ◽  
Author(s):  
Gül Yesiltepe Mutlu ◽  
Heves Kırmızıbekmez ◽  
Hatip Aydın ◽  
Handan Çetiner ◽  
Serdar Moralıoğlu ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
External Genitalia ◽  
Delayed Puberty ◽  
Sex Characteristics ◽  
Primary Amenorrhea ◽  
Laboratory Findings ◽  
Secondary Sex Characteristics ◽  
Disorder Of Sexual Development ◽  
Swyer Syndrome

Abstract46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY karyotype. Most of the studied cases presented with leak of secondary sex characteristics and primary amenorrhea during adolescence. Laboratory findings reveal hypergonadotropic hypogonadism. Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the

scholarly journals So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

2021 ◽  
Author(s):  
Reinaldo Luna de Omena Filho ◽  
Reginaldo José Petroli ◽  
Fernanda Caroline Soardi ◽  
Débora de Paula Michelatto ◽  
Taís Nitsch Mazzola ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Treatment Options ◽  
External Genitalia ◽  
Autosomal Recessive Disorder ◽  
Missense Variant ◽  
Ambiguous Genitalia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Genital Ambiguity ◽  
21 Hydroxylase Deficiency

Abstract The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosomes comprises diverse and rare etiologies. The deficiency of 17-beta-hydroxysteroid dehydrogenase type 3 enzyme (HSD17B3) is a rare autosomal recessive disorder due to functionally altered variants of the HSD17B3 gene. In this disorder/difference of sex development, the conversion of androstenedione into testosterone is impaired. The appearance of external genitalia of 46,XY individuals varies from typically male to almost female. We report on a child presenting severe ambiguous genitalia. Due to access constraints, specialized care did not start until the child was 10 months old. Parents are consanguineous and were born in an area of high isonymy that is a cluster for rare recessive diseases. A new homozygous missense variant c.785G > T was found in exon 10 of the HSD17B3 gene. Researchers-clinicians and researchers-researchers collaborative efforts to elucidate the genetic basis of this disease were critical since this etiologic investigation is not available through the public health system. This case exemplifies the families’ pilgrimage in cases of genital ambiguity due to a rare genetic condition. Recognizing the etiology was the baseline to provide information on prognosis and treatment options, and to shelter family and child doubts and hopes in order to better support their decisions.

scholarly journals Impact of estrogen replacement on growth, skeletal maturation, bone density and body composition in a girl with novel aromatase gene mutation

2021 ◽  
Vol 8 (8) ◽  
pp. 1445
Author(s):  
Neha Agarwal ◽  
Rishi Shukla ◽  
Anurag Bajpai
Keyword(s):  
Bone Density ◽  
Novel Mutation ◽  
Autosomal Recessive Disorder ◽  
Skeletal Maturation ◽  
Delayed Puberty ◽  
Hydroxylase Deficiency ◽  
Metabolic Complications ◽  
Aromatase Gene ◽  
21 Hydroxylase Deficiency ◽  
Work Up

Aromatase deficiency is a rare autosomal recessive disorder characterized by impaired androgen to estrogen conversion. We report a 13.5-year-old girl initially misdiagnosed as simple virilising 21 hydroxylase deficiency who presented with delayed puberty. Work-up showed aromatase deficiency due to novel mutation in the aromatase gene. Estradiol replacement was associated with increased growth, skeletal maturation, bone density and adiposity. Early estrogen treatment in our case may have prevented metabolic complications and ovarian cysts.  

Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency

2020 ◽  
Vol 33 (8) ◽  
pp. 1051-1056 ◽  
Author(s):  
Adlyne Reena Asirvatham ◽  
Karthik Balachandran ◽  
Packiamary Jerome ◽  
Vettriselvi Venkatesan ◽  
Teena Koshy ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Genetic Characteristics ◽  
Delay In Diagnosis ◽  
Genital Ambiguity ◽  
Uncommon Condition ◽  
Rule Out

AbstractObjectivesCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, that could rarely be due to 17 α-hydroxylase deficiency (17αOHD) and/or 17,20 lyase deficiency. Mutation of CYP17A1 gene causes deficiency of glucocorticoids and androgens but excess of mineralocorticoids. Lack of genital ambiguity in most children causes a delay in diagnosis even until puberty. Classical presentation with hypertension and hypokalemia is often not encountered. We intended to study the clinical, biochemical and genetic characteristics of children diagnosed with CAH due to 17αOHD.MethodsThree children who were diagnosed with CAH due to 17αOHD in our institute and on follow up were included in this retrospective study. Clinical, biochemical and genetic characteristics of these children were retrieved and studied from electronic medical records.ResultsTwo children were genetic females and one was genetic male, but all three were raised as females. All had hypertension at diagnosis except one but none had hypokalemia. All of them had mutation in the CYP17A1 gene. The two females responded well to oestrogen and progesterone and had adequate estrogenization clinically.ConclusionsEven though CAH due to 17αOHD is quite rare, it should be considered while evaluating young individuals with hypogonadism, hypertension with or without hypokalemia. Lack of genital ambiguity and absence of classical signs at presentation does not rule out this not so uncommon condition and warrants follow up.

scholarly journals Multidisciplinary team management of 46,XY 17α-hydroxylase deficiency: a case report and literature review

2021 ◽  
Vol 49 (3) ◽  
pp. 030006052199396
Author(s):  
Yang Zhou ◽  
Xue Xue ◽  
Panpan Shi ◽  
Qinrui Lu ◽  
Shulan Lv
Keyword(s):  
Multidisciplinary Team ◽  
Relevant Literature ◽  
Management Plan ◽  
Laboratory Evaluation ◽  
Primary Amenorrhea ◽  
Physical And Mental Health ◽  
Hydroxylase Deficiency ◽  
Holistic Management ◽  
Sexual Characteristics ◽  
Set Up

Background We report here a case study of 17α-hydroxylase deficiency in a phenotypic girl with male karyotype (46,XY). We also review the relevant literature to deepen our understanding of the disease, reduce the rate of missed diagnosis, and emphasize that holistic management of this disease requires collaborative multidisciplinary teamwork. Case presentation A 14-year-old patient with a female phenotype visited the endocrinology department because of hypertension. The patient had primary amenorrhea and lacked secondary sexual characteristics. Initial laboratory evaluation revealed normal levels of electrolytes, a hypergonadotropic hypogonadal state with high progesterone and low testosterone levels, and a 46,XY karyotype. She was referred to the urology department for gonadectomy and transferred to the gynecological endocrine clinic. On the basis of the patient’s medical history and genetic testing results, a diagnosis of 46,XY 17α-hydroxylase deficiency was made. The patient was provided with glucocorticoids, estrogens, metformin, and psychological support. Conclusions Patients with 17α-hydroxylase deficiency, a rare cause of congenital adrenal hyperplasia, should be treated by a multidisciplinary team. Relevant experts from different disciplines should set up a systematic and comprehensive individualized management plan to optimize the physical and mental health and quality of life of affected patients.

HERMAPHRODITISM: CLASSIFICATION, DIAGNOSIS, SELECTION OF SEX AND TREATMENT

PEDIATRICS ◽  
1955 ◽  
Vol 16 (3) ◽  
pp. 287-302
Author(s):  
Lawson Wilkins ◽  
Melvin M. Grumbach ◽  
Judson J. Van Wyk ◽  
Thomas H. Shepard ◽  
Constantine Papadatos
Keyword(s):  
External Genitalia ◽  
Exploratory Laparotomy ◽  
Ambiguous Genitalia ◽  
Urogenital Sinus ◽  
Sex Characteristics ◽  
Normal Female ◽  
Anatomic Structure ◽  
Before School ◽  
And Behavior ◽  
Made In

The different types of ambisexual development have been described. It is most important in earliest infancy to differentiate, on the basis of the 17-ketosteroid excretion, female pseudohermaphroditism due to congenital adrenal hyperplasia from other forms of ambisexual development. The female pseudohermaphrodites should be reared as girls and treated with cortisone according to the methods described. Surgical exploration is not indicated. If the clitoris is enlarged it should be removed before school age and the urogenital sinus corrected to form a separate vagina. With cortisone therapy continued normal female development can be assured. When the adreno-genital syndrome has been excluded, all patients with ambiguous genitalia should be submitted to careful urethroscopic study and exploratory laparotomy. This applies also to individuals who appear to be cryptorchid males with hypospadias and those resembling females with gonads in the groins or labia. These procedures should be carried out in the earliest months of life and a definite decision made as to the sex in which the child is to be reared. Abundant evidence has been accumulated that an individual's gender role and erotic orientation are established through the cumulative experiences of years of living as a boy or a girl. Irrespective of chromosomes, gonads or hormones, the child who from earliest infancy has been steadfastly accepted as a girl or as a boy, particularly if the external genitals have been altered to conform to this sex, will not question his own gender and will conform to the habits and behavior of the sex of rearing. When there is prolonged doubt and uncertainty on the part of the parents or when a change of sex is imposed after an early age and before late adolescence the child will be confused and perplexed and psychologic difficulties result. Accordingly, every effort should be made in early infancy to decide the sex of rearing and the parents should be given support, guidance and reassurance. Necessary corrective operations should be undertaken as early in life as possible. No change from the original decision should be made in later childhood. It is advisable to select the sex of rearing according to the anatomic structure of the external genitalia rather than the type of gonads or the sex chromosomal pattern. To attempt to make a boy of an individual who does not have a fairly well-developed phallus is unwise and condemns the patient to a life of misery. Male pseudohermaphrodites who have external genitalia of female configuration invariably feminize at puberty, so that orchidectomy is not necessary to prevent masculinization. Its only indication might be to avoid the possible risk of testicular malignancy. Male pseudohermaphrodites whose genitalia resemble the male or are ambiguous may either masculinize or feminize at puberty. If it is decided to raise such a child as a female because of the small size of the phallus, orchidectomy may be performed in infancy to avoid the risk of masculinization or it may be postponed until masculinization begins. The former course often seems preferable. At puberty estrogen should be given in doses adequate to develop female sex characteristics. In these cases gonadectomy cannot be considered a mutilating operation or one which deprives the patient of fertility. On the contrary it is one which enables the patient to continue as a reasonably normal individual in the sex in which he has been reared and prevents the disastrous psychologic upheaval of a sex reversal.

scholarly journals Reproductive potential in a case of Mosaic Turners syndrome with 46XY karyotype

2019 ◽  
Vol 9 (1) ◽  
pp. 424
Author(s):  
Geetha D. Balsarkar ◽  
Rachana D. Dalmia ◽  
Namita N. Raut
Keyword(s):  
Reproductive Potential ◽  
Ovarian Failure ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Phenotypic Features

This article describes a case of 18year-old-female who presented with primary amenorrhea, phenotypic features of Turners syndrome, which was confirmed later by Karyotype to have mosaic 45XO(8)/46XY(22). She had delayed puberty and proved (hormonally) to have ovarian failure, with absent Mullerian structures (radiologically and laparoscopy).

scholarly journals Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population

2019 ◽  
Vol 25 (1) ◽  
Author(s):  
Menglin Wang ◽  
Hao Wang ◽  
Haiying Zhao ◽  
Ling Li ◽  
Min Liu ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Gene Mutations ◽  
Autosomal Recessive Disorder ◽  
Chinese Han ◽  
Hydroxylase Deficiency ◽  
Case Presentation ◽  
Chinese Populations ◽  
Pathogenic Variants ◽  
Cytochrome P450 Family ◽  
Chinese Girls

Abstract Background 17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia, male pseudohermaphroditism and female gonadal dysplasia. Hundreds of pathogenic variants have been reported in this disorder, and some common mutations were found to be race-specific. Case presentation In this study, we reported 5 Chinese girls with 17α-hydroxylase deficiency from Henan Province. The patients all came to the hospital for hypertension, and they also presented with sexual infantilism. The average age of the patients was 14 years old, ranging from 12 to 17 years old. They all had reduced blood cortisol, estradiol (E2), and testosterone (TESTO) and increased adrenocorticotropic hormone (ACTH), follicle-stimulating hormone (FSH), and luteinizing hormone (LH). They all had the appearance of females; however, three of the chromosome karyotypes were 46XX, and two were 46XY. Conclusions All of the patients carried a mutation on the 329 amino acid of CYP17A1 exon 6. By summarizing the currently known pathogenic mutations of 17α-hydroxylase deficiency, we demonstrated the prevalence of these gene mutations in Chinese Han and non-Chinese populations.

scholarly journals Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Bing Han ◽  
Tong Cheng ◽  
Hui Zhu ◽  
Jie Yu ◽  
Wen-jiao Zhu ◽  
...  
Keyword(s):  
Chinese Population ◽  
Autosomal Recessive Disorder ◽  
Ambiguous Genitalia ◽  
Chinese Patients ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Reductase Deficiency ◽  
Significant Difference ◽  
Hotspot Mutations

Background. A deficiency in steroid 5α-reductase type 2 is an autosomal recessive disorder. Affected individuals manifested ambiguous genitalia, which is caused by decreased dihydrotestosterone (DHT) synthesis in the fetus. Methods. We analyzed 25 patients with 5α-reductase deficiency in China. Seventeen of the 25 patients (68%) were initially raised as females. Sixteen patients changed their social gender from female to male after puberty. Results. Eighteen mutations were identified in these patients. p.Gly203Ser and p.Gln6∗ were found to be the most prevalent mutations. On the basis of the genotype of these patients, we divided them into different groups. There was no significant difference in hormone levels and external masculinization score (EMS) in patients with or without these prevalent mutations. Twelve common single-nucleotide polymorphisms (SNPs) near the p.Gln6∗ mutation were chosen for haplotype analysis. Three haplotypes were observed in 6 patients who had the p.Gln6∗ mutation (12 alleles). Conclusion. We analyzed mutations of the SRD5A2 gene in Chinese patients with 5α-reductase deficiency. Although hotspot mutations exist, no founder effect of prevalent mutations in the SRD5A2 gene was detected in the Chinese population.

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