Two cases of 17α-hydroxylase deficiency - one combined with complete gonadal agenesis

1981 ◽  
Vol 98 (2) ◽  
pp. 267-273 ◽  
Author(s):  
Erling Tvedegaard ◽  
Viggo Frederiksen ◽  
Klaus Ølgaard ◽  
Meta Damkjær Nielsen ◽  
Jørgen Starup
Keyword(s):  
Plasma Renin ◽  
Sequential Therapy ◽  
Plasma Corticosterone ◽  
Hydroxylase Deficiency ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Male Genotype ◽  
Gonadal Agenesis ◽  
Secondary Sexual

Abstract. Two cases of 17α-hydroxylase deficiency are described. Both patients had primary amenorrhoea, total lack of female secondary sexual characteristics, slight hypertension and hypokalaemia. One patient was of male genotype (male pseudohermaphrodite), and in addition this patient had complete gonadal agenesis. The other patient was of female genotype. In both patients the level of plasma corticosterone was markedly increased, whereas the concentration of plasma cortisol was very low and plasma aldosterone low within the normal range. Furthermore, the plasma ACTH level was significantly increased and the plasma renin activity around the lower normal limit. The urinary excretion of corticosterone metabolites was markedly increased, whereas the excretion of both cortisol metabolites and tetrahydroaldosterone was decreased. The patients had no symptoms of glucocorticoid deficiency. Treatment with dexamethasone 0.5 mg daily completely suppressed the abnormal corticosterone production and normalized both blood pressure and serum potassium. In addition, the patient of male genotype has received sequential therapy with oestrogen and gestagen for 3 years, but so far no development of the secondary sexual characteristics has occurred.

scholarly journals Hypertension, hypokalemia, and left adrenal tumor mimicking primary aldosteronism in a patient with 17α-hydroxylase deficiency

2019 ◽  
Vol 7 (1) ◽  
pp. 6
Author(s):  
Shu-Heng Huang ◽  
Daw-Yang Hwang ◽  
Shang-Jyh Hwang
Keyword(s):  
Primary Aldosteronism ◽  
Adrenal Tumor ◽  
Laboratory Data ◽  
Adrenal Incidentaloma ◽  
Plasma Renin ◽  
Secondary Hypertension ◽  
Hydroxylase Deficiency ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Secondary Sexual

17α-hydroxylase deficiency (17OHD) is a rare disorder of secondary hypertension caused by congenital adrenal hyperplasia. In addition, co-occurrence of an adrenal tumor with 17OHD is extremely rare and easily misdiagnosed. A 33-year-old female with sicca syndrome, persistent hypertension, hypokalemia, and a left adrenal tumor was referred for confirmation of primary aldosteronism. However, the absence of secondary sexual characteristics, persistent growth beyond puberty, and laboratory data of low plasma renin activity, high aldosterone, low cortisol, low sex hormones, elevated adrenocorticotropic hormone, elevated luteinizing hormone, elevated follicle-stimulating hormone, and most importantly, decreased 17-hydroxypregnenolone, supported a diagnosis of 17OHD. We sequenced the CYP17A1 gene of the patient and her parents, which demonstrated genetic defects (D487-S,488-F489 deletion and Y329K418X). 17OHD was diagnosed. The left adrenal tumor was assessed, and a non-functional adrenal incidentaloma was confirmed; NP-59 adrenal cortical scintigraphy and adrenal venous sampling showed no functional activity and non-lateralization. Hormone replacements with estrogen, spironolactone, and prednisolone were given. The patient became more feminized and confident, and her hypertension was controlled. Early diagnosis and treatment of 17OHD not only can prevent delay development of secondary sexual characteristics but also help the patient maintain mental health and improve their quality of life. In addition, the concomitant presence of a left adrenal tumor makes misdiagnosis of a functional adenoma more likely, possibly causing unnecessary surgery and delay inappropriate treatment.

scholarly journals Primary amenorrhoea secondary to two different syndromes: a case study

2019 ◽  
Vol 12 (3) ◽  
pp. e228148
Author(s):  
Zareen Kiran ◽  
Tayyaba Jamil
Keyword(s):  
Turner Syndrome ◽  
Bone Growth ◽  
Single Patient ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Müllerian Agenesis ◽  
Sexual Characteristic ◽  
Secondary Sexual

Turner syndrome is a relatively common chromosomal abnormality presenting as primary amenorrhoea in gynaecological and endocrine clinics, caused by complete or partial X monosomy in some or all cells. Mayer-Rokitansky-Kuster-Hauser syndrome is another common cause of primary amenorrhoea characterised by Mullerian agenesis of varying degrees. We report a case of an 18-year-old girl, who presented with primary amenorrhoea, absence of secondary sexual characteristics and short stature. Hormonal profile confirms hypergonadotrophic hypogonadism. Karyotyping was consistent with Turner syndrome (45,XO). In addition, radiological imaging of the pelvis showed the absence of both ovaries as well as the uterus, cervix and vagina. This patient had therefore presented with two different syndromes as the cause of her primary amenorrhoea, which is extremely rare in a single patient. Moreover, oestrogen replacement therapy will trigger the development of secondary sexual characteristic and promote bone growth, but induction of menstruation and fertility is impossible.

scholarly journals Adolescent Girls with Pure Gonadal Dysgenesis: A Rare Disease

2018 ◽  
Vol 36 (4) ◽  
pp. 170-174
Author(s):  
Joysree Saha ◽  
Kohinoor Begum ◽  
Kamil Ara Khanom ◽  
Indrajit Prasad ◽  
Sumaya Akter
Keyword(s):  
Gonadal Dysgenesis ◽  
Ovarian Function ◽  
Sensorineural Deafness ◽  
Pubic Hair ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Patient Will ◽  
History Of ◽  
Secondary Sexual

Gonadal dysgenesis is a rare cause of primary amenorrhoea ,which is a relatively common problem among teenage girls.Primary amenorrhoea occurs in patient with gonadal dysgenesis because of absence or limited ovarian function due to inappropriate development.Streak gonads are unable to produce estrogens and/or androgens,resulting in minimal to no development of secondary sexual characteristics.Adrenal androgens may induce production of pubic hair,but patient will have minimal breast development.These patients may have a family history of infertility, short stature,sensorineural deafness,ataxia,mild mental retardation or gonadoblastoma. Here two cases of primary amenorrhoea due to pure gonadal dysgenesis are presented. 1 st  one was a 18yr old girl whose mother consulted with a gynaecologist at the age of 16yr because of her worries about absence of menarche of her daughter and secondone was a 14yr old girl whose mother consulted with a gynaecologist at the age of 16yr because of absence of secondary sexual characteristics as well as menarche of her daughter. In both cases, blood test showed very high levels of follicle stimulating hormone (FSH) & luteinizing hormone (LH), low levels of oestradiol& very low level of AMH. USG findings of both cases showed a bit hypoplastic uterus and volume of ovaries were smaller than normal. A diagnostic laparoscopy with biopsy of both gonads of one case was performed.Another case did not give consent for laparoscopy.Hormonal replacement therapy was applied on them for establishment of normal menstruation and menstruation was established in both cases.  An early diagnosis is extremely important to prevent long term consequences of Gonadal dysgenesis.J Bangladesh Coll Phys Surg 2018; 36(4): 170-174

Amenorrhea

2021 ◽  
pp. 175573802110316
Author(s):  
Pooja Munjal ◽  
Manju Nair
Keyword(s):  
Common Type ◽  
Reproductive Age ◽  
Primary Amenorrhea ◽  
Women Of Reproductive Age ◽  
Secondary Amenorrhea ◽  
Secondary Amenorrhoea ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Secondary Sexual

Amenorrhoea is defined as absence of menstruation in women of reproductive age. Primary amenorrhoea is a failure to start menstruation by the age of 13 years without secondary sexual characteristics or by the age of 15 years with normal secondary sexual characteristics. Secondary amenorrhoea is the absence of menstruation for 6 months in a woman with normal prior menstruation. Secondary amenorrhea is more common type, with a prevalence of between 3 and 4%. This compares with a prevalence of 0.3% for those with primary amenorrhea.

scholarly journals Prospective study of primary amenorrhoea and its management in a rural tertiary centre

2019 ◽  
Vol 8 (9) ◽  
pp. 3442
Author(s):  
Pavanaganga A. ◽  
Sai Prathyusha Ivalla ◽  
Nagarathnamma R. ◽  
Sailakshmi M. P. A.
Keyword(s):  
Prospective Study ◽  
Social Life ◽  
Primary Amenorrhea ◽  
Imperforate Hymen ◽  
Her Family ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Tertiary Centre ◽  
Sexual Characteristics ◽  
Secondary Sexual

Background: Amenorrhoea (absence of menstruation) is a symptom of varied causes. It results from dysfunction of hypothalamic-pituitary ovarian axis, uterus and vagina. It is a major concern for pubertal girls and their family members. It has a major impact on the physical, mental, psychological and social life of the girl and her family. The objective of the present study was to evaluate the aetiology and management of primary amenorrhoea in young adolescent girls.Methods: It was a prospective study conducted for a period of 2 years from August 2016 to July 2018 at Rajarajeswari medical college and hospital. Patients presenting with history of amenorrhoea that is, absence of menses by the age of 13 years with no visible development of secondary sexual characteristics or by 15 years of age with the presence of normal secondary sexual characteristics were included in our study. Cases of secondary amenorrhoea were excluded. Detailed history, examination, investigations and management was documented and analysed.Results: A total of 25 patients of primary amenorrhea were studied during the study period. In our study outflow tract anomalies were the commonest cause of amenorrhoea accounting for 84%, of which imperforate hymen (32%) and Mayer Rokitansky Küster Hauser syndrome (MRKH) 36% were the two most common Mullerian anomaly causing primary amenorrhoea. Gonadal dysgenesis accounted for 12% of the cases. Amenorrhoea was the commonest complaint patients presented with accounting to 76%, followed by cyclical pain abdomen accounting for 16% of cases.Conclusions: Primary amenorrhoea is multifactorial and is of major concern among adolescent girls. Early diagnosis and intervention has an impact on the physical and psychological wellbeing of the girl.

Primary Amenorrhoea with Pituitary Dwarfism: A rare case report

2016 ◽  
Vol 2 (2) ◽  
pp. 145-147
Author(s):  
Siva S ◽  
Divya Gopineni ◽  
Shafi P ◽  
Chandra Sekhar
Keyword(s):  
Pituitary Gland ◽  
General Medicine ◽  
Pituitary Hormones ◽  
Thyroid Stimulating Hormone ◽  
Primary Amenorrhea ◽  
Pituitary Dwarfism ◽  
Primary Amenorrhoea ◽  
Sexual Characteristics ◽  
Loss Of Appetite ◽  
Secondary Sexual

Females with pituitary dwarfism and a multiple deficiency of pituitary hormones show ovarian dysfunction due to hypogonadotropism. Primary amenorrhea can be diagnosed if a patient has normal secondary sexual characteristics but no menarche by 16 years of age. A 16 year-old female patient admitted in general medicine department with chief complaints of shortness of breath on exertion since 15 days, swelling of both legs since 10 days, loss of weight since 5 months, loss of appetite since 3 months, history of pain during swallowing. Pelvis scan examination reveals that uterus measures 3.2×0.5×0.5cm; uterus is hypo plastic, ovaries not visualized. Patient parents reveled that from patient birth to 11years of age her growth and other developments were normal, after that her growth is stopped and no changes were observed in development since 5 years. Patient has hypothyroidism so pituitary gland make an important role to maintain hormone levels, pituitary gland produces thyroid stimulating hormone (TSH) which stimulates thyroid gland to produce thyroid hormones. Primary Amenorrhea, short stature and poorly developed secondary sexual characters which could have been contributed and should be subjected for karyotyping. This type of Pituitary Dwarfism is very difficult to manage.

Comparative urogenital morphology and external sex determination in muskellunge, Esox masquinongy Mitchill

1989 ◽  
Vol 67 (4) ◽  
pp. 1053-1060 ◽  
Author(s):  
Bernard Lebeau ◽  
Gérard Pageau
Keyword(s):  
Ventral Surface ◽  
Northern Pike ◽  
Structural Basis ◽  
Simple Method ◽  
Esox Masquinongy ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Spawning Behaviour ◽  
Accurate Indicator ◽  
Secondary Sexual

Primary and secondary sexual characteristics in northern pike, Esox lucius Linneaus, and muskellunge, Esox masquinongy Mitchill, differ markedly. Differences in the internal urogenital anatomy include the structure of the genital ducts and the angle they form with the ventral surface. Externally, the genital and urinary ducts open directly to the environment in northern pike, whereas in muskellunge they open into a muscular papilla and then through a urogenital pore. Differences in sexual dimorphism between the two closely related esocids constitute a structural basis to explain the known differences in spawning behaviour and reproductive success. Differences in secondary sexual characteristics explain why the methods developed by Demchenko or Casselman to externally sex pike are inapplicable to muskellunge. To develop and test two external sexing techniques for muskellunge, specimens were collected from two regions in Canada from 1980 to 1987. Examination of reproductive products obtained from stripping provided an accurate indicator of sex and sexual maturity, but demonstrated serious limitations. A simple method to sex muskellunge by examination of the external urogenital morphology is described for juveniles and adults. Dissection of fish revealed that with the urogenital examination technique we sexed juveniles with a success rate of 92–98%, and adults with 100% accuracy.

The effects of phthalate and nonylphenol exposure on body size and secondary sexual characteristics during puberty

2015 ◽  
Vol 218 (7) ◽  
pp. 603-615 ◽  
Author(s):  
Jia-Woei Hou ◽  
Ching-Ling Lin ◽  
Yen-An Tsai ◽  
Chia-Huang Chang ◽  
Kai-Wei Liao ◽  
...  
Keyword(s):  
Body Size ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Secondary Sexual
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