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

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.

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Turner's Syndrome: Approach to Diagnosis and Treatment

Nepal Journal of Obstetrics and Gynaecology ◽

10.3126/njog.v13i3.23476 ◽

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

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Central Precocious Puberty in a Three-Year-Old Girl

INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY ◽

10.24293/ijcpml.v27i3.1568 ◽

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.

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Hormonal and genetic analysis of a patient with congenital adrenal hyperplasia

Clinical Chemistry ◽

10.1093/clinchem/42.9.1483 ◽

1996 ◽

Vol 42 (9) ◽

pp. 1483-1487 ◽

Cited By ~ 7

Author(s):

R H Summers ◽

D A Herold ◽

B L Seely

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Autosomal Recessive Disorder ◽

Signs And Symptoms ◽

Breast Development ◽

Laboratory Evaluation ◽

Medical Attention ◽

Uncomplicated Urinary Tract Infection ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

21 Hydroxylase Deficiency

Abstract We describe a patient with signs and symptoms of virilization caused by 21-hydroxylase deficiency. The patient, a Hispanic woman, first sought medical attention at age 24, when she presented to a medical clinic with an uncomplicated urinary tract infection. At that time several signs of virilization were noted and she was referred to the endocrinology clinic. Evaluation revealed temporal balding, hyperpigmentation, acne, absent breast development, a muscular habitus, and clitoromegaly. Radiological studies revealed bilaterally enlarged adrenal glands and ovaries. Laboratory evaluation revealed markedly increased concentrations of 17-hydroxyprogesterone, androstenedione, and testosterone. The patient was diagnosed with congenital adrenal hyperplasia (CAH) and received hormone therapy. In her sister, encouraged to undergo testing for this autosomal recessive disorder, HLA testing demonstrated that certain haplotypes in this family were associated with CAH. The case highlights key steps in the laboratory diagnosis and genetics of CAH.

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Postinjection Muscle Fibrosis from Lupron

Case Reports in Pediatrics ◽

10.1155/2015/938264 ◽

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.

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