scholarly journals 46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation ofCYP17A1Gene: Consequences of Late Diagnosis

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Giampaolo Papi ◽  
Rosa Maria Paragliola ◽  
Paola Concolino ◽  
Carlo Di Donato ◽  
Alfredo Pontecorvi ◽  
...  
Keyword(s):  
Ethinyl Estradiol ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Breast Development ◽  
Normal Male ◽  
Primary Amenorrhea ◽  
Homozygous Mutation ◽  
Tall Stature ◽  
Disorder Of Sex Development ◽  
Sex Development

Context.Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway.Case Description.A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. CT scan revealed enlarged adrenal glands bilaterally and the absence of the uterus, the ovaries, and the Fallopian tubes. Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of theCYP17A1gene she resulted homozygous for the g.4869T>A; g.4871delC (p.Y329Kfs?) mutation in exon 6. Hydrocortisone and ethinyl-estradiol supplementation therapy led to incomplete withdrawal of antihypertensive drug and breast development progression to Tanner stage B2 and slight height increase, respectively.Conclusions.We describe a late-discovered case of CAH with 46,XY disorder of sex development. Deficiency of 17α-hydroxylase/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. Laboratory, imaging, and genetic features are herein reported and discussed.

scholarly journals A Case of Swyer Syndrome Associated with Advanced Gonadal Dysgerminoma Involving Long Survival

2015 ◽  
Vol 8 (1) ◽  
pp. 179-184 ◽  
Author(s):  
Salete Da Silva Rios ◽  
Isabella Christina Mazzaro Monteiro ◽  
Larissa Gonçalves Braz dos Santos ◽  
Natasha Garcia Caldas ◽  
Ana Carolina Rios Chen ◽  
...  
Keyword(s):  
Sex Differentiation ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Primary Amenorrhea ◽  
Histopathological Analysis ◽  
Current Case ◽  
Stage 4 ◽  
Ovarian Dysgerminoma ◽  
The University ◽  
Swyer Syndrome

Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The current case report describes a patient with Swyer syndrome associated with stage 3 gonadal dysgerminoma who has survived for 23 years. At age 18, this patient sought assistance for primary amenorrhea from the Gynecological Services Department of the University of Brasília Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts, and pubic hair; she presented with a eutrophic vagina and a small cervix. She was treated with a combination of estrogens and progestogens to induce cycling. Approximately 4 years later, a complex tumor was found and resected; a histopathological analysis revealed that this tumor was a right adnexal dysgerminoma with peritoneal affection. The patient was also subjected to chemotherapy. Her follow-up has continued to the present time, with no signs of tumor recurrence. In conclusion, this report describes an extremely rare case in which Swyer syndrome was associated with ovarian dysgerminoma; relative to similar patients, the described patient has survived for an unusually prolonged time.

scholarly journals Turner's Syndrome: Approach to Diagnosis and Treatment

2018 ◽  
Vol 13 (3) ◽  
pp. 61-62
Author(s):  
Sadhana Sah ◽  
Ganesh Dangal ◽  
Aruna Karki ◽  
Hema Pradhan ◽  
Ranjana Shrestha ◽  
...  
Keyword(s):  
Short Stature ◽  
Estrogen Therapy ◽  
Tanner Stage ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Secondary Sexual Characteristics ◽  
Karyotypic Abnormality ◽  
Sexual Characteristics

Turner's syndrome is the most common karyotypic abnormality causing gonadal failure and primary amenorrhea. It is characterized by short stature and absence of secondary sexual characteristics. It is diagnosed by increased plasma FSH and LH level with low level of estrogen i.e. hypergonadotrophic hypogonadism. Ultrasound abdomen reveals streak ovaries and atrophic uterus. Karyotype confirms the diagnosis of Turner's syndrome (45XO). We present here a 15 years girl who presented with primary amenorrhea with short stature with breast development corresponds to Tanner stage I. Her FSH was raised. Ultrasound abdomen showed uterine agenesis and streak ovaries. Karyotype showed 45XO which confirmed the diagnosis of Turner's syndrome. She is now on estrogen therapy and her height has increased and breast development corresponds to Tanner stage II. Keywords: hypergonadotrophic hypogonadism, primary amenorrhea, Turner's syndrome

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development

2016 ◽  
Vol 10 (1) ◽  
pp. 16-22 ◽  
Author(s):  
Inas Mazen ◽  
Heba Amin ◽  
Alaa Kamel ◽  
Mona El Ruby ◽  
Joelle Bignon-Topalovic ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Homozygous Mutation ◽  
Disorder Of Sex Development ◽  
Sex Development

scholarly journals Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair

2009 ◽  
Vol 160 (2) ◽  
pp. 325-330 ◽  
Author(s):  
Serap Turan ◽  
Abdullah Bereket ◽  
Tulay Guran ◽  
Teoman Akcay ◽  
Mahboubeh Papari-Zareei ◽  
...  
Keyword(s):  
Serum Levels ◽  
Pubic Hair ◽  
Breast Development ◽  
Homozygous Mutation ◽  
Hormone Production ◽  
Adrenal Androgens ◽  
Undetectable Serum ◽  
Irregular Menses ◽  
Hair Development

Objective17-Hydroxylase/17,20-lyase deficiency (17OHD) results from mutations in the CYP17A1 gene, leading to failure to synthesize cortisol, adrenal androgens, and gonadal steroids. Adrenarche is a consequence of the increased production of adrenal androgens. Here, we report a case carrying novel R239Q mutation causing complete functional loss of CYP17A1, and thus absence of adrenal and gonadal sex hormone production. The patient has had unexpected pubic hair development and insufficient breast development with estrogen replacement therapy. Possible mechanisms leading to pubic hair development and breast underdevelopment are discussed.Patient and methodsA 15-year-old female born to consanguineous parents presented with the lack of full breast development and irregular menses after the age of 14 years. She had Tanner III breast development on one side, Tanner I on the other side and Tanner I pubic hair and, no axillary hair development. The serum levels of FSH, LH, and progesterone were high and, estradiol was low. The measurement of basal and ACTH-stimulated steroids was consistent with the diagnosis of 17OHD. Genetic analysis revealed novel homozygous mutation R239Q in CYP17A1 gene. Therapy with hydrocortisone was initiated and followed by the addition of conjugated estrogen. Her breast development did not improve considerably, however, pubic hair development started after estrogen treatment in spite of undetectable serum levels of androgens.ConclusionThis case study suggests that estrogen exerts a permissive effect on pubic hair development in girls, even in the presence of very low-circulating androgens, and impaired breast development might be due to estrogen/progesterone imbalance in breast tissue.

scholarly journals Ovotesticular Disorder of Sex Development: An Unusual Presentation

2019 ◽  
Vol 9 ◽  
pp. 34 ◽  
Author(s):  
Meltem Özdemir ◽  
Rasime Pelin Kavak ◽  
Ihsan Yalcinkaya ◽  
Kursat Guresci
Keyword(s):  
Unusual Case ◽  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Normal Male ◽  
Genital Organ ◽  
Rare Form ◽  
Disorder Of Sex Development ◽  
Breast Enlargement ◽  
Sex Development ◽  
Bilateral Breast Enlargement

Disorder of sex development is an inclusive term that refers to any problem where the genital organ is atypical in relation to chromosomes or gonads. Ovotesticular disorder of sex development, which is formerly known as “true hermaphroditism,” is the most rare form among all disorders of sex development in humans. It is characterized by the simultaneous presence of both ovarian and testicular tissues in the same individual and characteristically presents with ambiguous genitalia in neonates or infants. Herein, we present an unusual case of a 19-year-old individual with phenotypically nearly normal male genitalia who presented with the complaint of bilateral breast enlargement.

scholarly journals Disorder of Sexual Development with Sex Chromosome Mosaicism 46 XY and 47 XXY

2013 ◽  
Vol 4 (1) ◽  
pp. 34-37
Author(s):  
Sampath Kumar Govindaraj ◽  
Lakshmidevi Muralidhar ◽  
Rajiv Kumar Saxena
Keyword(s):  
Sexual Development ◽  
Sex Chromosome ◽  
Tanner Stage ◽  
Testicular Atrophy ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Cell Hyperplasia ◽  
Chromosome Mosaicism ◽  
Disorder Of Sexual Development ◽  
Patient Reported

ABSTRACT Incidence of abnormalities of sex chromosome is reported to be 1 in 448 new born babies. The association between clinical phenotype and sex chromosome abnormality is highly variable. A 34-year-old unmarried female patient reported to out patient department with complaints of primary amenorrhea and occasional pain in the lower abdomen. On examination, her height was 160 cm and body mass index (BMI) was 27 kg/m2. Breast development was Tanner stage 4, pubic hair was tanners stage 1 and no axillary hair was noted. Ultrasonography showed a hypoechoic structure in the place of uterus measuring around 1.7 × 1.1 × 1.0 cm and hypoechoic structures were also noted in relation to iliac vessels suggestive of gonads. Karyotyping showed 46 XY and 47 XXY mosaicism. Bilateral gonadectomy was done and histopathology showed testicular atrophy with Leydig cell hyperplasia. This case is reported in view of the interesting clinical presentation of this rare mosaicism. How to cite this article Govindaraj SK, Muralidhar L, Venkatesh S, Saxena RK. Disorder of Sexual Development with Sex Chromosome Mosaicism 46 XY and 47 XXY. Int J Infertility Fetal Med 2013;4(1):34-37.

scholarly journals A Rare Case of Swyer Syndrome

2019 ◽  
Vol 9 (2) ◽  
pp. 174-176
Author(s):  
Faria Afsana ◽  
Md Faruque Pathan ◽  
Shamshad Jahan Shelly
Keyword(s):  
Rare Case ◽  
Sex Differentiation ◽  
Hormone Replacement ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Primary Amenorrhea ◽  
Abdominal Ultrasonography ◽  
Replacement Treatment ◽  
Patient Reported ◽  
Swyer Syndrome

Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The present case report describes a patient with Swyer syndrome associated with gonadoblastoma. At age of 16 years, this patient reported with primary amenorrhea at Gynae Department of the BIRDEM general Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts and pubic hair; she had normal vagina and a small cervix. As her examination findings revealed normal, she was referred to Endocrine outpatient (OPD) for further evaluation. Her karyotyping revealed 46XXY, abdominal ultrasonography revealed adnexal tumor in both sides. On laparotomy, complex tumor was found in both adnexal regions and both ovaries were resected and histopathology revealed gonadoblastoma. The patient was subjected to subsequent chemotherapy. She was treated with a combination of estrogens and progestogens to induce cyclical bleeding, which she discontinued after 3 years. She was lost to follow up for 16 years and again reported to endocrine OPD with irregular menstrual bleeding. Presence of any residual gonadal functional tissue was searched both biochemically and by imaging and the result was negative. Her menstruation was stopped by progestogens and which later on withdrawn successfully without any further onset of menstruation. In conclusion, this report describes an extremely rare case of Swyer syndrome with gonadoblastoma and spontaneous menstruation after a long period of discontinuation of hormone replacement treatment. Birdem Med J 2019; 9(2): 174-176

scholarly journals Child with ‘46, XX’ disorder of sex development: clues to diagnose aromatase deficiency

2019 ◽  
Vol 12 (12) ◽  
pp. e232575
Author(s):  
Saurav Shishir Agrawal ◽  
Partha Pratim Chakraborty ◽  
Anirban Sinha ◽  
Animesh Maiti
Keyword(s):  
Bone Age ◽  
Ambiguous Genitalia ◽  
Tall Stature ◽  
Polycystic Ovaries ◽  
Disorder Of Sex Development ◽  
Primary Amenorrhoea ◽  
Sex Development ◽  
Genital Ambiguity ◽  
Life Threatening ◽  
History Of

A diagnosis of congenital adrenal hyperplasia (CAH) in a ‘46, XX’ newborn with ambiguous genitalia is like a ‘knee jerk reaction’ of the paediatrician because of its higher frequency and life-threatening consequences if remain undiagnosed and hence untreated. Aromatase deficiency (AD), a rare cause of ‘46, XX’ disorder of sex development, mimics virilising CAH in many aspects; thus, the disease is often overlooked. Diagnosis of AD in women is much easier around puberty due to the presence of primary amenorrhoea, undeveloped breasts, androgen excess and tall stature with eunuchoid proportions. Diagnosing AD with confidence immediately after birth or during early childhood is a challenging task without genetic analysis. In resource-restricted settings, AD remains a diagnosis of exclusion particularly in this age group and history of maternal virilisation, non-progressive genital ambiguity, elevated gonadotrophins (follicle-stimulating hormone >>luteinising hormone), mildly delayed bone age with/without enlarged polycystic ovaries serve as important clues to the underlying AD.

A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH)

2016 ◽  
Vol 29 (12) ◽  
Author(s):  
Vidya Kanamkote Narayanan ◽  
Mira Kharbanda ◽  
Malcolm Donaldson
Keyword(s):  
Gonadal Dysgenesis ◽  
Array Cgh ◽  
Ethinyl Estradiol ◽  
Standard Deviation Score ◽  
Breast Development ◽  
Comparative Genomic ◽  
Cylindrical Shape ◽  
Tall Stature ◽  
Height Measurement ◽  
Critical Height

Abstract Background: Gonadal dysgenesis with an apparently normal 46,XX karyotype is a rare cause of hypergonadotrophic hypogonadism. Tall stature is not a widely recognized association. Case report: A 15-year-old girl presented with primary amenorrhoea. Examination showed a non-dysmorphic girl of normal intellect with no breast development (Tanner stage B1P4A1) who was tall compared with her parents: height standard deviation score (SDS) +1.56 vs. midparental height of +0.23 SDS, and slim build (weight −0.13 SDS). Investigations showed a 46,XX karyotype, elevated gonadotropins (FSH 119 and LH 33.7 IU/L), serum estradiol <5 pmol/L, uterine length 3.75 cm with cylindrical shape, and absent ovaries on ultrasound. Initially, a 364055-bp deletion on Xp21.2 was reported on array CGH. However, repeat analysis using BlueGnome CytoChip ISCA 4x180k v2.0 array was normal. With oral ethinyl estradiol induction puberty progressed to B4P4A2 but aged 18.4 years, the patient was remarkably tall with height SDS +2.88, weight SDS +0.97. Conclusions: Caution is needed in interpreting small changes with array CGH, particularly with the older assays. We postulate that the genetic change causing 46,XX gonadal dysgenesis in our patient may have also resulted in unsuppressed somatic growth. More critical height assessment, including parental height measurement, of future patients with 46,XX gonadal dysgenesis is recommended in order to determine whether or not a true association with tall stature may be present in certain cases.

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