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

scholarly journals Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity

2020 ◽  
Vol 105 (5) ◽  
pp. 1478-1488 ◽  
Author(s):  
Soumia Brakta ◽  
Lynn P Chorich ◽  
Hyung-Goo Kim ◽  
Laurel A Coons ◽  
John A Katzenellenbogen ◽  
...  
Keyword(s):  
Medical Center ◽  
Academic Medical Center ◽  
Lower Abdominal Pain ◽  
Breast Development ◽  
White Female ◽  
Vaginal Smear ◽  
Primary Amenorrhea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Secondary Sexual

Abstract Context We previously reported the first female with a causative ESR1 gene variant, who exhibited absent puberty and high estrogens. At age 15 years, she presented with lower abdominal pain, absent breast development, primary amenorrhea, and multicystic ovaries. The natural history of complete estrogen insensitivity (CEI) in women is unknown. Objective The purpose of this report is to present the neuroendocrine phenotype of CEI, identify potential ligands, and determine the effect of targeted treatment. Design We have characterized gonadotropin pulsatility and followed this patient’s endocrine profile and bone density over 8 years. Seventy-five different compounds were tested for transactivation of the variant receptor. A personalized medicine approach was tailored to our patient. Setting Academic medical center. Patient or Other Participants A 24-year-old adopted white female with CEI. Intervention(s) The patient was treated with diethylstilbestrol (DES) for approximately 2.5 years. Main Outcome Measure(s) Induction of secondary sexual characteristics. Results Luteinizing hormone (LH) pulse studies demonstrated normal pulsatile LH secretion, elevated mean LH, and mildly elevated mean follicle-stimulating hormone (FSH) in the presence of markedly increased estrogens. DES transactivated the variant ESR1 in vitro. However, DES treatment did not induce secondary sexual characteristics in our patient. Conclusions Treatment with DES was not successful in our patient. She remains hypoestrogenic despite the presence of ovarian cysts with a hypoestrogenic vaginal smear, absent breast development, and low bone mineral mass. Findings suggest additional receptor mechanistic actions are required to elicit clinical hormone responses.

scholarly journals Central Precocious Puberty in a Three-Year-Old Girl

2021 ◽  
Vol 27 (3) ◽  
pp. 341
Author(s):  
Suryani Jamal ◽  
Liong Boy Kurniawan ◽  
Suci Aprianti ◽  
Ratna Dewi Artati ◽  
Ruland DN Pakasi ◽  
...  
Keyword(s):  
Physical Examination ◽  
Precocious Puberty ◽  
Tanner Stage ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Breast Development ◽  
Hypothalamic Hamartoma ◽  
Secondary Sexual Characteristics ◽  
Pelvic Ultrasonography ◽  
Sexual Characteristics

Precocious puberty is defined as the onset of secondary sexual characteristics before 8 years of age in girls and 9 years in boys. Central Precocious Puberty (CPP) is caused by early activation of the hypothalamic-pituitary-gonadal axis. Laboratory test of LH, FSH, and Estradiol is recommended for monitoring suppressive effects from GnRHa therapy in the early three months and every six months. This study aimed to report a case of CPP in a 3-year and 3-month-old girl. A 3-year and 3-month-old girl went to the hospital with vaginal bleeding (menstruation), breast development, and pubic and axilla hair for 7-month-old. Physical examination found moderately ill with obesity, body weight 20 kg, height 98 cm. Tanner stage was A2M3P2, café au lait was found in the left forehead with size 7x3.5 cm. In March 2015 before GnRHa therapy, LH, FSH and Estradiol level increased with levels of 4.32 mlU/mL, 6.01 mlU/mL, and 67 pg/mL, and after 3 months of the treatment was 0.87 mlU/mL, 2.51 mlU/mL and <20 pg/mL. Pelvic ultrasonography showed suggestive precocious puberty, bone age 5-year and 9-month (Greulich and Pyle), CT-Scan of the brain showed hypothalamic tumor suspected hypothalamic hamartoma. This patient was treated with a GnRHa injection every 4 weeks. Leuprorelin is a synthetic non-peptide analogue of natural GnRH. The diagnosis was based on medical history, physical examination, laboratory, and radiological findings. The prognosis of the patient was good.

scholarly journals Diagnosis and management of of primary amenorrhea and female delayed puberty

2021 ◽  
Author(s):  
Satu Seppä ◽  
Tanja Kuiri-Hänninen ◽  
Elina Holopainen ◽  
Raimo Voutilainen
Keyword(s):  
Pubertal Development ◽  
Hypogonadotropic Hypogonadism ◽  
Reproductive Capacity ◽  
Breast Development ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Old Females ◽  
Secondary Sexual

Puberty is the period of transition from childhood to adulthood characterized by the attainment of adult height and body composition, accrual of bone strength and the acquisition of secondary sexual characteristics, psychosocial maturation and reproductive capacity. In girls, menarche is a late marker of puberty. Primary amenorrhea is defined as the absence of menarche in ≥15-year-old females with developed secondary sexual characteristics and normal growth or that in ≥13-year-old females without signs of pubertal development. Furthermore, evaluation for primary amenorrhea should be considered in the absence of menarche three years after thelarche (start of breast development) or five years after thelarce, if that occurred before the age of 10 years. A variety of disorders in the hypothalamus-pituitary-ovarian axis can lead to primary amenorrhea with delayed, arrested or normal pubertal development. Etiologies can be categorized as hypothalamic or pituitary disorders causing hypogonadotropic hypogonadism, gonadal disorders causing hypergonadotropic hypogonadism, disorders of other endocrine glands, and congenital utero-vaginal anomalies. This article gives a comprehensive review of the etiologies, diagnostics and management of primary amenorrhea from the perspective of pediatric endocrinologists and gynecologists. The goals of treatment vary depending on both the etiology and patient; with timely etiological diagnostics fertility may be attained even in those situations where no curable treatment exists.

scholarly journals Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia

2019 ◽  
Vol 12 (12) ◽  
pp. e230778
Author(s):  
Sílvia Cristina de Sousa Paredes ◽  
Olinda Marques ◽  
Marta Alves
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Tanner Stage ◽  
Breast Development ◽  
Adrenal Hyperplasia ◽  
Biochemical Tests ◽  
Hydroxylase Deficiency ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Proper Diagnosis ◽  
Partial Deficiency

Congenital adrenal hyperplasia (CAH) due to 17α-hydroxylase deficiency, a rare CAH syndrome, is characterised by failure to synthetise cortisol, adrenal androgens and gonadal steroids. The partial deficiency is much rarer, presenting with subtler symptoms. Failure to reach a proper diagnosis causes inappropriate hypertension treatment and impairs the development of secondary sexual characteristics. We report a case of a 30-year-old woman transferred to an endocrinology clinic for evaluation of autoimmune thyroiditis. She was started on oral contraceptives at the age of 13 due to oligomenorrhea and presented underdeveloped pubic and axillar hair and Tanner stage 3 breast development. Biochemical tests evidenced very low androgens levels and genetic analysis confirmed a CAH due to 17α-hydroxylase deficiency. Partial 17α-hydroxylase deficiency is a rare clinical entity, nevertheless, it should be included in the differential diagnosis of menstrual disorders.

scholarly journals Postinjection Muscle Fibrosis from Lupron

2015 ◽  
Vol 2015 ◽  
pp. 1-3
Author(s):  
Erica Everest ◽  
Laurie A. Tsilianidis ◽  
Nouhad Raissouni ◽  
Tracy Ballock ◽  
Terra Blatnik ◽  
...  
Keyword(s):  
Adult Height ◽  
Tanner Stage ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Left Breast ◽  
Breast Development ◽  
Muscle Fibrosis ◽  
Secondary Sexual Characteristics ◽  
Hormone Analog ◽  
Sexual Characteristics

We describe the case of a 6.5-year-old girl with central precocious puberty (CPP), which signifies the onset of secondary sexual characteristics before the age of eight in females and the age of nine in males as a result of stimulation of the hypothalamic-pituitary-gonadal axis. Her case is likely related to her adoption, as children who are adopted internationally have much higher rates of CPP. She had left breast development at Tanner Stage 2, adult body odor, and mildly advanced bone age. In order to halt puberty and maximize adult height, she was prescribed a gonadotropin releasing hormone analog, the first line treatment for CPP. She was administered Lupron (leuprolide acetate) Depot-Ped (3 months) intramuscularly. After her second injection, she developed swelling and muscle pain at the injection site on her right thigh. She also reported an impaired ability to walk. She was diagnosed with muscle fibrosis. This is the first reported case of muscle fibrosis resulting from Lupron injection.

A highly sensitive sandwich enzyme immunoassay of urinary growth hormone in children with short stature, Turner's syndrome, and simple obesity

1989 ◽  
Vol 121 (4) ◽  
pp. 513-519 ◽  
Author(s):  
Hiroshi Tomita ◽  
Masamichi Ogawa ◽  
Takashi Kamijo ◽  
Osamu Mori ◽  
Eiji Ishikawa ◽  
...  
Keyword(s):  
Short Stature ◽  
Enzyme Immunoassay ◽  
Gh Deficiency ◽  
Urine Samples ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Highly Sensitive ◽  
Significant Difference ◽  
Simple Obesity ◽  
Sandwich Enzyme Immunoassay

Abstract. GH values were determined by a highly sensitive sandwich enzyme immunoassay in the 1st morning and/or 24-h accumulated urine samples in 94 children (short stature 70, including 14 with complete GH deficiency, 9 with partial GH deficiency, and 47 with GH-normal short stature; Turner's syndrome, 10, and simple obesity, 14). GH values were also determined in the 2nd to 4th urine samples taken on the same day together with the 1st morning urine in 5 of them. GH values in the 1st morning urine correlated significantly with those of the 24-h urine and with serum peak and mean GH values during nocturnal sleep as a physiological GH secretion test. The 2nd to 4th urines had lower GH concentrations than the 1st morning urine. The GH value of the 1st morning urine in complete GH deficiency was significantly lower than those in GH-normal short stature, partial GH deficiency and Turner's syndrome. However, no significant difference was detected in urinary GH values between complete GH deficiency and simple obesity. We conclude that 1st morning urinary GH estimation may be useful for differentiation of complete GH deficiency from other causes of short stature, but may be difficult for the distinction between complete GH deficiency and obesity with normal GH secretory ability.

scholarly journals MRKH syndrome: a review of literature

2018 ◽  
Vol 7 (12) ◽  
pp. 5219
Author(s):  
Nidhi Jain ◽  
Jyotsna Harlalka Kamra
Keyword(s):  
Ovarian Function ◽  
Surgical Techniques ◽  
Primary Amenorrhea ◽  
Mrkh Syndrome ◽  
Secondary Sexual Characteristics ◽  
Secondary Sexual Characters ◽  
Vaginal Aplasia ◽  
Rare Congenital Disorder ◽  
Sexual Characteristics ◽  
Secondary Sexual

Primary amenorrhea is defined as failure to achieve menarche till age of 14 years in absence of normal secondary sexual characters or till 16 years irrespective of secondary sexual characters. The most common cause of primary amenorrhea is gonadal pathology followed by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome). MRKH syndrome is a rare congenital disorder characterised by uterine and vaginal aplasia. It occurs due to failure of development of Müllerian duct. Its incidence is 1 per 4500 female births. Mostly girls present with primary amenorrhea. It is characterised by presence of normal secondary sexual characteristics, normal 46 XX genotype, normal ovarian function in most of the cases and absent or underdeveloped uterus and upper part (2/3) of vagina. It is of two types: type A is isolated type while type B is associated with other renal/skeletal/cardiac anomalies. Treatment includes psychological counselling and vaginoplasty. Vaginoplasty can be done by various non-surgical and surgical techniques. The authors hereby review the literature of MRKH syndrome regarding its embryology, etiopathogenesis, approach to work up and management.

Estrogen Therapy in Turner's Syndrome

1992 ◽  
Vol 34 (2) ◽  
pp. 195-205 ◽  
Author(s):  
Gordon B. Cutler ◽  
Judith Levine Ross
Keyword(s):  
Estrogen Therapy ◽  
Turner's Syndrome ◽  
Turner’S Syndrome

scholarly journals Serum Levels of 20-Kilodalton Human Growth Hormone (GH) Are Parallel Those of 22-Kilodalton Human GH in Normal and Short Children

1999 ◽  
Vol 84 (1) ◽  
pp. 98-104 ◽  
Author(s):  
Mayumi Ishikawa ◽  
Susumu Yokoya ◽  
Katsuhiko Tachibana ◽  
Yukihiro Hasegawa ◽  
Toshiaki Yasuda ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Short Stature ◽  
Physiological Role ◽  
Growth Disorders ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Nocturnal Sleep ◽  
Normal Children ◽  
Significant Difference ◽  
The Mean

Twenty-kilodalton human GH (20K), which is one of the human GH (hGH) variants, is thought to be produced by alternative premessenger ribonucleic acid splicing. However, its physiological role is still unclear due to the lack of a specific assay. We have measured serum 20K and 22-kDa hGH (22K) by specific ELISAs to investigate the physiological role of 20K in children. The subjects were 162 normal children, aged 1 month to 20 yr; 12 patients with GH deficiency (GHD), aged 11 months to 13 yr; 57 children with non-GHD short stature, aged 2–17 yr; and 13 girls with Turner’s syndrome, aged 5 months to 15 yr. Samples were collected at random from normal children and were collected after hGH provocative tests and 3-h nocturnal sleep from GHD, non-GHD short stature, and Turner’s syndrome children. The mean basal serum concentrations of 22K and 20K were 2.4 ± 2.8 ng/mL and 152.3 ± 184.0 pg/mL in normal boys and 2.5 ± 3.1 ng/mL and 130.6 ± 171.5 pg/mL in normal girls, respectively. The percentages of 20K (%20K) were 5.8 ± 2.1% and 6.0 ± 3.2% in 83 normal boys and 79 normal girls, respectively. There was no significant difference in %20K either among ages or between the prepubertal stage and the pubertal stage in normal boys and girls. The mean %20K values in basal samples of provocative tests in 12 patients with GHD, non-GHD short stature, and Turner’s syndrome were 6.5 ± 2.4%, 6.5 ± 3.8%, and 5.9 ± 3.2%, respectively. There was no significant difference in %20K among normal children and these growth disorders, and there was no significant difference in %20K throughout the hGH provocative tests and 3-h nocturnal sleep in these growth disorders. There was also no significant correlation between the percentage of 20K and the height sd score or body mass index in either normal children or subjects with these growth disorders. In conclusion, the %20K is constant, regardless of age, sex, puberty, height sd score, body mass index, and GH secretion status. The regulation of serum 20K levels remains to be established.

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